Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
Alglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report hematologic, visceral, bone pain, bone crisis, height, weight, and Body Mass Index (BMI) outcomes in patients treated for 20 (±3) years with subset analyses base...
Saved in:
Published in | Molecular genetics and metabolism Vol. 132; no. 2; pp. 100 - 111 |
---|---|
Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
01.02.2021
|
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | Alglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report hematologic, visceral, bone pain, bone crisis, height, weight, and Body Mass Index (BMI) outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation.
GD type 1 (GD1) patients in the ICGG Gaucher Registry with complete sets of baseline, 10-year, and 20-year data are included (N = 475). Ten-year and 20-year data are compared to pre-treatment baseline, stratified by splenectomy status.
Non-splenectomized patients: Improvements observed at 10 years were maintained at 20 years for most outcomes. Mean changes from baseline at 10 and 20 years, respectively, were: spleen volume: 18.2 multiples of normal (MN) to 5.1 MN and 4.2 MN; liver volume: 1.8 MN to 1.0 MN and 1.0 MN; hemoglobin: 11.4 g/dL to 13.7 g/dL and 13.8 g/dL; platelet count: 91.6 × 109/L to 168.0 × 109/L and 169.1 × 109/L; without bone crisis: 85.0% to 98.2% and 96.5%; without bone pain: 52.5% to 72.0% at 10 years, no significant change at 20 years (58.5%). Splenectomized patients: significant changes were observed in liver volume: 2.3 MN to 1.1 MN and 1.0 MN; hemoglobin: 11.7 g/dL to 13.3 g/dL and 13.4 g/dL; platelet count: 229.1 × 109/L to 288.1 × 109/L and 257.0 × 109/L; without bone crisis: 52.2% to 91.3% and 100%; without bone pain: 16.3% to 30.6% (not significant) and 46.9%. Similar results were found in each of the subset analyses. Patients who start treatment during childhood have normal weight and height in young adulthood. Many treated adult patients are overweight or obese; however, this is consistent with BMI trends observed in the general population. After 1–2 years, the average biweekly imiglucerase dose is ~40 units/kg body weight.
Imiglucerase is an effective, long-term treatment for GD1. In a long-term observational setting, improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients. These results are consistent when analyzed by different patient subsets, including by disease severity. |
---|---|
AbstractList | BACKGROUNDAlglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report hematologic, visceral, bone pain, bone crisis, height, weight, and Body Mass Index (BMI) outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation. METHODSGD type 1 (GD1) patients in the ICGG Gaucher Registry with complete sets of baseline, 10-year, and 20-year data are included (N = 475). Ten-year and 20-year data are compared to pre-treatment baseline, stratified by splenectomy status. RESULTSNon-splenectomized patients: Improvements observed at 10 years were maintained at 20 years for most outcomes. Mean changes from baseline at 10 and 20 years, respectively, were: spleen volume: 18.2 multiples of normal (MN) to 5.1 MN and 4.2 MN; liver volume: 1.8 MN to 1.0 MN and 1.0 MN; hemoglobin: 11.4 g/dL to 13.7 g/dL and 13.8 g/dL; platelet count: 91.6 × 109/L to 168.0 × 109/L and 169.1 × 109/L; without bone crisis: 85.0% to 98.2% and 96.5%; without bone pain: 52.5% to 72.0% at 10 years, no significant change at 20 years (58.5%). Splenectomized patients: significant changes were observed in liver volume: 2.3 MN to 1.1 MN and 1.0 MN; hemoglobin: 11.7 g/dL to 13.3 g/dL and 13.4 g/dL; platelet count: 229.1 × 109/L to 288.1 × 109/L and 257.0 × 109/L; without bone crisis: 52.2% to 91.3% and 100%; without bone pain: 16.3% to 30.6% (not significant) and 46.9%. Similar results were found in each of the subset analyses. Patients who start treatment during childhood have normal weight and height in young adulthood. Many treated adult patients are overweight or obese; however, this is consistent with BMI trends observed in the general population. After 1-2 years, the average biweekly imiglucerase dose is ~40 units/kg body weight. CONCLUSIONImiglucerase is an effective, long-term treatment for GD1. In a long-term observational setting, improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients. These results are consistent when analyzed by different patient subsets, including by disease severity. Alglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report hematologic, visceral, bone pain, bone crisis, height, weight, and Body Mass Index (BMI) outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation. GD type 1 (GD1) patients in the ICGG Gaucher Registry with complete sets of baseline, 10-year, and 20-year data are included (N = 475). Ten-year and 20-year data are compared to pre-treatment baseline, stratified by splenectomy status. Non-splenectomized patients: Improvements observed at 10 years were maintained at 20 years for most outcomes. Mean changes from baseline at 10 and 20 years, respectively, were: spleen volume: 18.2 multiples of normal (MN) to 5.1 MN and 4.2 MN; liver volume: 1.8 MN to 1.0 MN and 1.0 MN; hemoglobin: 11.4 g/dL to 13.7 g/dL and 13.8 g/dL; platelet count: 91.6 × 109/L to 168.0 × 109/L and 169.1 × 109/L; without bone crisis: 85.0% to 98.2% and 96.5%; without bone pain: 52.5% to 72.0% at 10 years, no significant change at 20 years (58.5%). Splenectomized patients: significant changes were observed in liver volume: 2.3 MN to 1.1 MN and 1.0 MN; hemoglobin: 11.7 g/dL to 13.3 g/dL and 13.4 g/dL; platelet count: 229.1 × 109/L to 288.1 × 109/L and 257.0 × 109/L; without bone crisis: 52.2% to 91.3% and 100%; without bone pain: 16.3% to 30.6% (not significant) and 46.9%. Similar results were found in each of the subset analyses. Patients who start treatment during childhood have normal weight and height in young adulthood. Many treated adult patients are overweight or obese; however, this is consistent with BMI trends observed in the general population. After 1–2 years, the average biweekly imiglucerase dose is ~40 units/kg body weight. Imiglucerase is an effective, long-term treatment for GD1. In a long-term observational setting, improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients. These results are consistent when analyzed by different patient subsets, including by disease severity. Alglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report hematologic, visceral, bone pain, bone crisis, height, weight, and Body Mass Index (BMI) outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation. GD type 1 (GD1) patients in the ICGG Gaucher Registry with complete sets of baseline, 10-year, and 20-year data are included (N = 475). Ten-year and 20-year data are compared to pre-treatment baseline, stratified by splenectomy status. Non-splenectomized patients: Improvements observed at 10 years were maintained at 20 years for most outcomes. Mean changes from baseline at 10 and 20 years, respectively, were: spleen volume: 18.2 multiples of normal (MN) to 5.1 MN and 4.2 MN; liver volume: 1.8 MN to 1.0 MN and 1.0 MN; hemoglobin: 11.4 g/dL to 13.7 g/dL and 13.8 g/dL; platelet count: 91.6 × 10 /L to 168.0 × 10 /L and 169.1 × 10 /L; without bone crisis: 85.0% to 98.2% and 96.5%; without bone pain: 52.5% to 72.0% at 10 years, no significant change at 20 years (58.5%). Splenectomized patients: significant changes were observed in liver volume: 2.3 MN to 1.1 MN and 1.0 MN; hemoglobin: 11.7 g/dL to 13.3 g/dL and 13.4 g/dL; platelet count: 229.1 × 10 /L to 288.1 × 10 /L and 257.0 × 10 /L; without bone crisis: 52.2% to 91.3% and 100%; without bone pain: 16.3% to 30.6% (not significant) and 46.9%. Similar results were found in each of the subset analyses. Patients who start treatment during childhood have normal weight and height in young adulthood. Many treated adult patients are overweight or obese; however, this is consistent with BMI trends observed in the general population. After 1-2 years, the average biweekly imiglucerase dose is ~40 units/kg body weight. Imiglucerase is an effective, long-term treatment for GD1. In a long-term observational setting, improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients. These results are consistent when analyzed by different patient subsets, including by disease severity. |
Author | Camelo, José Simon Weinreb, Neal J. Charrow, Joel Mistry, Pramod McClain, Monica R. Belmatoug, Nadia |
Author_xml | – sequence: 1 givenname: Neal J. surname: Weinreb fullname: Weinreb, Neal J. email: N.weinreb@med.miami.edu organization: Departments of Human Genetics and Medicine (Hematology), University of Miami Miller School of Medicine, Miami, FL, USA – sequence: 2 givenname: José Simon surname: Camelo fullname: Camelo, José Simon email: jscamelo@fmrp.usp.br organization: Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Av., 3900 - 5th floor - Off D506 - HC Criança, São Paulo, Brazil – sequence: 3 givenname: Joel surname: Charrow fullname: Charrow, Joel email: jcharrow@northwestern.edu organization: Northwestern University Feinberg School of Medicine, 225 E Chicago Ave, Chicago, IL 60611, USA – sequence: 4 givenname: Monica R. surname: McClain fullname: McClain, Monica R. email: mmcclain@acmg.net organization: Sanofi Genzyme, 50 Binney Street, Cambridge, MA 02142, USA – sequence: 5 givenname: Pramod surname: Mistry fullname: Mistry, Pramod email: pramod.mistry@yale.edu organization: Department of Internal Medicine, Yale University School of Medicine, The Anlyan Center Building Room S217B, 300 Cedar Street, New Haven, CT 06520, USA – sequence: 6 givenname: Nadia surname: Belmatoug fullname: Belmatoug, Nadia email: nadia.belmatoug@aphp.fr organization: Department of Internal Medicine, Referral Center for Lysosomal Diseases Assistance Publique-Hôpitaux de Paris, Paris Université, Beaujon Hospital, 100 Boulevard du Général Leclerc, 92110 Clichy, France |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33485799$$D View this record in MEDLINE/PubMed |
BookMark | eNp9kc1OAyEUhYmp0frzBCaGpZtWmIGZYeHCNFpNmpgYXRMG7lSa-anA1Mxr-MTS1rp0xYF89x7uPWdo1HYtIHRFyZQSmt2upkOzbGCakCS-JNNE8CM0pkRkkzwh2eigqUhO0Zn3K0Io5YKdoNM0ZQXPhRij77nq9Qc4bKwH5QGHYQ2Y4rUKFtrgceW6BocPwM-z-Rwf6FdYWh_cgH3vg7Ittq0NVtVY11HpKGyzdt0Gml0T0zvbLnH4ircBD6Ccx10VGbusew1uZ-xAhS1-gY4rVXu4_D3P0fvjw9vsabJ4mT_P7hcTzQgLk4xorQ0poRKFyAkzRVFyxphQcUgOhmcCSqCcgcoU55ylotC0JGBUTrNCp-foZt83fvSzBx9kY72GulYtdL2XCStIzmlOaETTPapd572DSq6dbZQbJCVyG4ZcyV0YchuGpImMYcSq61-DvmzA_NUcth-Buz0AccyNBSe9jlvXYKwDHaTp7L8GPzwKoR0 |
CitedBy_id | crossref_primary_10_3390_biomedicines11102672 crossref_primary_10_2217_frd_2022_0019 crossref_primary_10_1016_j_beha_2023_101522 crossref_primary_10_3390_jcm12175518 crossref_primary_10_3390_jcm13123588 crossref_primary_10_1016_j_bcmd_2022_102705 crossref_primary_10_1016_j_bcmd_2023_102728 crossref_primary_10_1186_s13023_022_02517_0 crossref_primary_10_3390_life13051135 crossref_primary_10_1093_brain_awac379 crossref_primary_10_1016_j_gim_2022_10_011 crossref_primary_10_1515_tjb_2022_0002 crossref_primary_10_1002_ajh_26276 crossref_primary_10_3390_jcm13102782 crossref_primary_10_1007_s00109_021_02174_z crossref_primary_10_7554_eLife_87537 crossref_primary_10_1002_jimd_12749 crossref_primary_10_1002_jmd2_12342 crossref_primary_10_1186_s13023_023_02823_1 crossref_primary_10_1002_ajh_27347 crossref_primary_10_1002_ajh_26675 crossref_primary_10_2147_JBM_S444296 crossref_primary_10_3390_jcm13102926 crossref_primary_10_1016_j_addr_2022_114531 crossref_primary_10_1016_j_ymgme_2022_03_001 crossref_primary_10_1016_j_ymgmr_2021_100798 crossref_primary_10_1016_j_cca_2024_119811 crossref_primary_10_2147_JBM_S279756 crossref_primary_10_1002_cpz1_696 crossref_primary_10_1016_j_ejphar_2022_175023 crossref_primary_10_1007_s44162_023_00019_6 |
Cites_doi | 10.5639/gabij.2019.0802.008 10.1016/S0002-9343(02)01150-6 10.1007/s10545-018-0142-y 10.1002/ajh.25701 10.1148/91.6.1195 10.1016/j.bcmd.2010.05.001 10.1007/s10545-008-0779-z 10.1148/radiol.2015150887 10.1016/j.bcmd.2016.11.014 10.1159/000489251 10.1111/j.1365-2141.2007.06701.x 10.1186/1743-7075-10-34 10.1016/j.bcmd.2010.09.007 10.1007/s00223-014-9923-y 10.1016/j.bcmd.2010.05.002 10.1007/s11926-000-0059-x 10.1007/8904_2012_158 10.1002/ajh.21280 10.1542/peds.2007-2144 10.1016/j.bcmd.2007.09.002 10.1007/s10545-008-0832-y 10.1016/j.ymgme.2018.08.004 10.1111/j.1365-2141.2012.09175.x 10.1097/GIM.0b013e31818e2c19 10.1097/MD.0b013e3182057be4 10.1186/s13023-015-0280-3 10.1016/j.beem.2014.08.006 10.1016/j.ymgme.2006.09.003 10.1007/s11136-004-0794-y 10.1016/j.bcmd.2016.10.002 10.1053/j.seminhematol.2004.07.009 10.1111/liv.14640 10.1001/jama.2013.281053 10.1016/j.ijsu.2014.07.013 10.1002/ajh.24801 10.3390/jcm9082343 10.1001/archinte.160.18.2835 10.1111/j.1365-2141.2009.07872.x 10.1002/jbmr.3734 10.1007/s10545-012-9528-4 |
ContentType | Journal Article |
Copyright | 2021 The Authors Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved. |
Copyright_xml | – notice: 2021 The Authors – notice: Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved. |
CorporateAuthor | for the International Collaborative Gaucher Group (ICGG) Gaucher Registry (NCT00358943) investigators International Collaborative Gaucher Group (ICGG) Gaucher Registry (NCT00358943) investigators |
CorporateAuthor_xml | – name: for the International Collaborative Gaucher Group (ICGG) Gaucher Registry (NCT00358943) investigators – name: International Collaborative Gaucher Group (ICGG) Gaucher Registry (NCT00358943) investigators |
DBID | 6I. AAFTH NPM AAYXX CITATION 7X8 |
DOI | 10.1016/j.ymgme.2020.12.295 |
DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access PubMed CrossRef MEDLINE - Academic |
DatabaseTitle | PubMed CrossRef MEDLINE - Academic |
DatabaseTitleList | MEDLINE - Academic PubMed |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Anatomy & Physiology Chemistry Biology |
EISSN | 1096-7206 |
EndPage | 111 |
ExternalDocumentID | 10_1016_j_ymgme_2020_12_295 33485799 S1096719221000019 |
Genre | Journal Article |
GroupedDBID | --- --K --M -~X .55 .GJ .~1 0R~ 123 1B1 1RT 1~. 1~5 29M 4.4 457 4G. 53G 5RE 5VS 6I. 7-5 71M 8P~ AACTN AAEDT AAEDW AAFTH AAIAV AAIKJ AAKOC AALRI AAOAW AAQFI AAQXK AAXUO ABFNM ABFRF ABGSF ABJNI ABMAC ABUDA ABXDB ABYKQ ACDAQ ACGFO ACGFS ACRLP ADBBV ADEZE ADFGL ADMUD ADUVX AEBSH AEFWE AEHWI AEKER AENEX AFKWA AFTJW AFXIZ AGHFR AGRDE AGUBO AGYEJ AHPSJ AIEXJ AIKHN AITUG AJBFU AJOXV ALMA_UNASSIGNED_HOLDINGS AMFUW AMRAJ ASPBG AVWKF AXJTR AZFZN BKOJK BLXMC CAG COF CS3 DM4 DOVZS DU5 EBS EFBJH EFLBG EJD EO8 EO9 EP2 EP3 F5P FDB FEDTE FGOYB FIRID FNPLU FYGXN G-Q GBLVA HVGLF HZ~ IHE J1W K-O KOM L7B LG5 M41 MO0 N9A O-L O9- OAUVE OZT P-8 P-9 P2P PC. Q38 R2- RIG ROL RPZ SDF SDG SDP SES SEW SPCBC SSU SSZ T5K X7M XPP ZA5 ZGI ZMT ZU3 ~G- ~KM AAXKI AFJKZ AKRWK NPM AAYXX CITATION 7X8 |
ID | FETCH-LOGICAL-c404t-60cccd0bef989704d88b54449a1595ed569ebe154ea6a5554398c1b0eda7168c3 |
IEDL.DBID | AIKHN |
ISSN | 1096-7192 |
IngestDate | Sat Oct 26 00:52:08 EDT 2024 Thu Sep 26 15:35:51 EDT 2024 Sat Sep 28 08:24:50 EDT 2024 Fri Feb 23 02:48:34 EST 2024 |
IsDoiOpenAccess | true |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 2 |
Keywords | MN DS3 NS ERT DM Severity Imiglucerase Gaucher disease Gaucher registry Enzyme replacement therapy GD1 NE Long-term outcomes ICGG GD BMI |
Language | English |
License | This is an open access article under the CC BY-NC-ND license. Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved. |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c404t-60cccd0bef989704d88b54449a1595ed569ebe154ea6a5554398c1b0eda7168c3 |
Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
OpenAccessLink | https://www.sciencedirect.com/science/article/pii/S1096719221000019 |
PMID | 33485799 |
PQID | 2480751701 |
PQPubID | 23479 |
PageCount | 12 |
ParticipantIDs | proquest_miscellaneous_2480751701 crossref_primary_10_1016_j_ymgme_2020_12_295 pubmed_primary_33485799 elsevier_sciencedirect_doi_10_1016_j_ymgme_2020_12_295 |
PublicationCentury | 2000 |
PublicationDate | February 2021 2021-02-00 20210201 |
PublicationDateYYYYMMDD | 2021-02-01 |
PublicationDate_xml | – month: 02 year: 2021 text: February 2021 |
PublicationDecade | 2020 |
PublicationPlace | United States |
PublicationPlace_xml | – name: United States |
PublicationTitle | Molecular genetics and metabolism |
PublicationTitleAlternate | Mol Genet Metab |
PublicationYear | 2021 |
Publisher | Elsevier Inc |
Publisher_xml | – name: Elsevier Inc |
References | Mariani, Palumbo, Cardarelli, Santopietro, Foà, Giona (bb0075) 2018; 139 Mistry, Batista, Andersson, Balwani, Burrow, Charrow (bb0140) 2017; 92 DeLand, North (bb0110) 1968; 91 Grabowski, Petsko, Kolodny (bb0005) 2014 Esquivel-Aguilar, Hernández-Guadarrama, Terreros-Muñoz, Castañeda-Hernández, García-Ortiz, Navarrete-Martínez (bb0050) 2019; 8 Charrow, Andersson, Kaplan, Kolodny, Mistry, Pastores (bb0020) 2000; 160 Chow, Luxembourg, Seifried, Bonig (bb0115) 2016; 279 Hollak, Belmatoug, Cole, Vom Dahl, Deegan, Goldblatt (bb0085) 2012; 158 Weinreb, Barbouth, Lee (bb0220) 2018; 68 Mendelsohn, Meir, Abrahamov, Elstein, Zimran, Levy-Khademi (bb0190) 2018; 68 Grabowski, Kolodny, Weinreb, Rosenbloom, Prakash-Cheng, Kaplan (bb0010) 2014 Weinreb, Finegold, Feingold, Zeng, Rosenbloom, Shankar (bb0135) 2015; 10 Starzyk, Richards, Yee, Smith, Kingma (bb0215) 2007; 90 Biegstraaten, van Schaik, Aerts, Hollak (bb0015) 2008; 31 Regenboog, van Dussen, Verheij, Weinreb, Santosa, Vom Dahl (bb0090) 2018; 41 Nascimbeni, Cassinerio, Dalla Salda, Motta, Bursi, Donatiello (bb0095) 2018; 125 Pastores, Patel, Firooznia (bb0145) 2000; 2 Serratrice, Stirnemann, Berrahal, Belmatoug, Camou, Caillaud (bb0205) 2020; 9 Grabowski, Kacena, Cole, Hollak, Zhang, Yee (bb0170) 2009; 11 Weinreb, Goldblatt, Villalobos, Charrow, Cole, Kerstenetzky (bb0030) 2013; 36 Cox, Aerts, Belmatoug, Cappellini, vom Dahl, Goldblatt (bb0065) 2008; 31 Goldblatt, Fletcher, McGill, Szer, Wilson (bb0160) 2011; 46 Hughes, Mikosch, Belmatoug, Carubbi, Cox, Goker-Alpan (bb0125) 2019; 34 Andersson, Kaplan, Kacena, Yee (bb0185) 2008; 122 Deegan, Pavlova, Tindall, Stein, Bearcroft, Mehta (bb0120) 2011; 90 Deroma, Sechi, Dardis, Macor, Liva, Ciana (bb0155) 2013; 7 Nascimbeni, Lugari, Cassinerio, Motta, Cavicchioli, Dalla Salda (bb0200) 2020 Aug 18 Giraldo, Solano, Perez-Calvo, Giralt, Rubio-Felix (bb0150) 2005; 14 CDC (bb0055) Weinreb, Taylor, Cox, Yee, vom Dahl (bb0175) 2008; 83 Drelichman, Castañeda-Hernández, Ar, Dragosky, Garcia, Lee (bb0045) 2020; 95 Langeveld, de Fost, Aerts, Sauerwein, Hollak (bb0195) 2008; 40 von Elm, Altman, Egger, Pocock, Gotzsche, Vandenbroucke (bb0040) 2014; 12 Doneda, Netto, Moulin, Schwartz (bb0180) 2013; 10 Fryar, Kruszon-Moran, Gu, Ogden (bb0060) 2018; 122 Weinreb, Charrow, Andersson, Kaplan, Kolodny, Mistry (bb0025) 2002; 113 Hollak, Weinreb (bb0105) 2015; 29 World Medical Association (bb0035) 2013; 310 Marcucci, Zimran, Bembi, Kanis, Reginster, Rizzoli (bb0130) 2014; 95 Hughes, Cappellini, Berger, Van Droogenbroeck, de Fost, Janic (bb0070) 2007; 138 Webb, Weinreb, Botti, Kirmse, Balwani (bb0080) 2011; 46 Pastores, Weinreb, Aerts, Andria, Cox, Giralt (bb0100) 2004; 41 Mistry, Deegan, Vellodi, Cole, Yeh, Weinreb (bb0210) 2009; 147 Zimran, Altarescu, Elstein (bb0165) 2011; 46 Charrow (10.1016/j.ymgme.2020.12.295_bb0020) 2000; 160 DeLand (10.1016/j.ymgme.2020.12.295_bb0110) 1968; 91 Deegan (10.1016/j.ymgme.2020.12.295_bb0120) 2011; 90 Mistry (10.1016/j.ymgme.2020.12.295_bb0140) 2017; 92 Grabowski (10.1016/j.ymgme.2020.12.295_bb0010) 2014 Regenboog (10.1016/j.ymgme.2020.12.295_bb0090) 2018; 41 Hughes (10.1016/j.ymgme.2020.12.295_bb0125) 2019; 34 Chow (10.1016/j.ymgme.2020.12.295_bb0115) 2016; 279 Mariani (10.1016/j.ymgme.2020.12.295_bb0075) 2018; 139 Weinreb (10.1016/j.ymgme.2020.12.295_bb0030) 2013; 36 Serratrice (10.1016/j.ymgme.2020.12.295_bb0205) 2020; 9 Langeveld (10.1016/j.ymgme.2020.12.295_bb0195) 2008; 40 CDC (10.1016/j.ymgme.2020.12.295_bb0055) Nascimbeni (10.1016/j.ymgme.2020.12.295_bb0095) 2018; 125 Starzyk (10.1016/j.ymgme.2020.12.295_bb0215) 2007; 90 Grabowski (10.1016/j.ymgme.2020.12.295_bb0170) 2009; 11 Marcucci (10.1016/j.ymgme.2020.12.295_bb0130) 2014; 95 Goldblatt (10.1016/j.ymgme.2020.12.295_bb0160) 2011; 46 Doneda (10.1016/j.ymgme.2020.12.295_bb0180) 2013; 10 Grabowski (10.1016/j.ymgme.2020.12.295_bb0005) 2014 von Elm (10.1016/j.ymgme.2020.12.295_bb0040) 2014; 12 Hughes (10.1016/j.ymgme.2020.12.295_bb0070) 2007; 138 Biegstraaten (10.1016/j.ymgme.2020.12.295_bb0015) 2008; 31 Nascimbeni (10.1016/j.ymgme.2020.12.295_bb0200) 2020 Mendelsohn (10.1016/j.ymgme.2020.12.295_bb0190) 2018; 68 Giraldo (10.1016/j.ymgme.2020.12.295_bb0150) 2005; 14 Zimran (10.1016/j.ymgme.2020.12.295_bb0165) 2011; 46 Cox (10.1016/j.ymgme.2020.12.295_bb0065) 2008; 31 Weinreb (10.1016/j.ymgme.2020.12.295_bb0135) 2015; 10 Deroma (10.1016/j.ymgme.2020.12.295_bb0155) 2013; 7 Weinreb (10.1016/j.ymgme.2020.12.295_bb0025) 2002; 113 Hollak (10.1016/j.ymgme.2020.12.295_bb0105) 2015; 29 Hollak (10.1016/j.ymgme.2020.12.295_bb0085) 2012; 158 Mistry (10.1016/j.ymgme.2020.12.295_bb0210) 2009; 147 Weinreb (10.1016/j.ymgme.2020.12.295_bb0220) 2018; 68 Webb (10.1016/j.ymgme.2020.12.295_bb0080) 2011; 46 Drelichman (10.1016/j.ymgme.2020.12.295_bb0045) 2020; 95 Andersson (10.1016/j.ymgme.2020.12.295_bb0185) 2008; 122 Fryar (10.1016/j.ymgme.2020.12.295_bb0060) 2018; 122 Pastores (10.1016/j.ymgme.2020.12.295_bb0100) 2004; 41 Esquivel-Aguilar (10.1016/j.ymgme.2020.12.295_bb0050) 2019; 8 Pastores (10.1016/j.ymgme.2020.12.295_bb0145) 2000; 2 World Medical Association (10.1016/j.ymgme.2020.12.295_bb0035) 2013; 310 Weinreb (10.1016/j.ymgme.2020.12.295_bb0175) 2008; 83 |
References_xml | – volume: 14 start-page: 453 year: 2005 end-page: 462 ident: bb0150 article-title: Spanish Group on Gaucher disease. Quality of life related to type 1 Gaucher disease: Spanish experience publication-title: Qual. Life Res. contributor: fullname: Rubio-Felix – volume: 11 start-page: 92 year: 2009 end-page: 100 ident: bb0170 article-title: Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1 publication-title: Genet Med. contributor: fullname: Yee – volume: 91 start-page: 1195 year: 1968 end-page: 1198 ident: bb0110 article-title: Relationship between liver size and body size publication-title: Radiology. contributor: fullname: North – volume: 160 start-page: 2835 year: 2000 end-page: 2843 ident: bb0020 article-title: The Gaucher Registry: Demographics and disease characteristics of 1698 patients with Gaucher disease publication-title: Arch. Intern. Med. contributor: fullname: Pastores – volume: 310 start-page: 2191 year: 2013 end-page: 2194 ident: bb0035 article-title: Declaration of Helsinki: Ethical principles for medical research involving human subjects publication-title: JAMA contributor: fullname: World Medical Association – volume: 29 start-page: 205 year: 2015 end-page: 218 ident: bb0105 article-title: The attenuated/late onset lysosomal storage disorders: therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease publication-title: Best Pract. Res. Clin. Endocrinol. Metab. contributor: fullname: Weinreb – volume: 122 start-page: 1 year: 2018 end-page: 16 ident: bb0060 article-title: Mean body weight, height, waist crcumference, and body mass index among adults: United States, 1999-2000 through 2015-2016 publication-title: Natl. Health Stat. Report. contributor: fullname: Ogden – ident: bb0055 article-title: National Health and Nutrition Examination Survey contributor: fullname: CDC – volume: 36 start-page: 543 year: 2013 end-page: 553 ident: bb0030 article-title: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment publication-title: J. Inherit. Metab. Dis. contributor: fullname: Kerstenetzky – volume: 138 start-page: 676 year: 2007 end-page: 686 ident: bb0070 article-title: Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease publication-title: Br. J. Haematol. contributor: fullname: Janic – volume: 68 start-page: 211 year: 2018 end-page: 217 ident: bb0220 article-title: Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy publication-title: Blood Cells Mol. Dis. contributor: fullname: Lee – volume: 113 start-page: 112 year: 2002 end-page: 119 ident: bb0025 article-title: Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry publication-title: Am. J. Med. contributor: fullname: Mistry – volume: 158 start-page: 528 year: 2012 end-page: 538 ident: bb0085 article-title: Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years publication-title: Br. J. Haematol. contributor: fullname: Goldblatt – volume: 9 start-page: 2343 year: 2020 ident: bb0205 article-title: A cross-sectional retrospective study of non-splenectomized and never-treated patients with type 1 Gaucher disease publication-title: J. Clin. Med. contributor: fullname: Caillaud – volume: 31 start-page: 319 year: 2008 end-page: 336 ident: bb0065 article-title: Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring publication-title: J. Inherit. Metab. Dis. contributor: fullname: Goldblatt – volume: 2 start-page: 175 year: 2000 end-page: 180 ident: bb0145 article-title: Bone and joint complications related to Gaucher disease publication-title: Curr. Rheumatol. Rep. contributor: fullname: Firooznia – year: 2014 ident: bb0005 article-title: Gaucher disease publication-title: The Online Metabolic and Molecular Bases of Inherited Disease contributor: fullname: Kolodny – volume: 46 start-page: 107 year: 2011 end-page: 110 ident: bb0160 article-title: Enzyme replacement therapy “drug holiday”: results from an unexpected shortage of an orphan drug supply in Australia publication-title: Blood Cells Mol. Dis. contributor: fullname: Wilson – volume: 10 start-page: 34 year: 2013 ident: bb0180 article-title: Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: A systematic review publication-title: Nutr. Metab. contributor: fullname: Schwartz – volume: 7 start-page: 117 year: 2013 end-page: 122 ident: bb0155 article-title: Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 Italian Gaucher type I patients publication-title: JIMD Rep. contributor: fullname: Ciana – volume: 68 start-page: 97 year: 2018 end-page: 99 ident: bb0190 article-title: Growth and final height of children with Gaucher disease: A 15-year follow-up at an Israeli Gaucher center publication-title: Blood Cells Mol. Dis. contributor: fullname: Levy-Khademi – volume: 147 start-page: 561 year: 2009 end-page: 570 ident: bb0210 article-title: Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: Effect on incidence of avascular necrosis publication-title: Br. J. Haematol. contributor: fullname: Weinreb – volume: 90 start-page: 157 year: 2007 end-page: 163 ident: bb0215 article-title: The long-term international safety experience of imiglucerase therapy for Gaucher disease publication-title: Mol. Genet. Metab. contributor: fullname: Kingma – volume: 92 start-page: 929 year: 2017 end-page: 939 ident: bb0140 article-title: Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry publication-title: Am. J. Hematol. contributor: fullname: Charrow – volume: 31 start-page: 337 year: 2008 end-page: 349 ident: bb0015 article-title: ‘Non-neuronopathic’ Gaucher disease disease patients and a systematic review of the literature publication-title: J. Inherit. Metab. Dis. contributor: fullname: Hollak – volume: 41 start-page: 819 year: 2018 end-page: 827 ident: bb0090 article-title: Hepatocellular carcinoma in Gaucher disease: An international case series publication-title: J. Inherit. Metab. Dis. contributor: fullname: Vom Dahl – volume: 125 start-page: 64 year: 2018 end-page: 72 ident: bb0095 article-title: Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease publication-title: Mol. Genet. Metab. contributor: fullname: Donatiello – volume: 12 start-page: 1495 year: 2014 end-page: 1499 ident: bb0040 article-title: The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: Guidelines for reporting observational studies publication-title: Int. J. Surg. contributor: fullname: Vandenbroucke – volume: 8 start-page: 71 year: 2019 end-page: 75 ident: bb0050 article-title: Are there biosimilar orphan drugs for Gaucher disease? An overview in Mexico publication-title: GaBI J. contributor: fullname: Navarrete-Martínez – volume: 279 start-page: 306 year: 2016 end-page: 313 ident: bb0115 article-title: Spleen size is significantly influenced by body height and sex: establishment of normal values for spleen size at US with a cohort of 1200 healthy individuals publication-title: Radiology. contributor: fullname: Bonig – volume: 90 start-page: 52 year: 2011 end-page: 60 ident: bb0120 article-title: Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy publication-title: Medicine. contributor: fullname: Mehta – volume: 122 start-page: 1182 year: 2008 end-page: 1190 ident: bb0185 article-title: Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1 publication-title: Pediatrics. contributor: fullname: Yee – volume: 95 start-page: 477 year: 2014 end-page: 494 ident: bb0130 article-title: Gaucher disease and bone manifestations publication-title: Calcif. Tissue Int. contributor: fullname: Rizzoli – volume: 46 start-page: 111 year: 2011 end-page: 114 ident: bb0165 article-title: Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply publication-title: Blood Cells Mol. Dis. contributor: fullname: Elstein – year: 2014 ident: bb0010 article-title: Gaucher Disease: Phenotypic and genetic variation publication-title: The Online Metabolic and Molecular Bases of Inherited Disease contributor: fullname: Kaplan – volume: 34 start-page: 996 year: 2019 end-page: 1013 ident: bb0125 article-title: Gaucher disease in bone: from pathophysiology to practice publication-title: J. Bone Miner. Res. contributor: fullname: Goker-Alpan – volume: 10 start-page: 64 year: 2015 ident: bb0135 article-title: Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3) publication-title: Orphanet. J. Rare Dis. contributor: fullname: Shankar – volume: 40 start-page: 428 year: 2008 end-page: 432 ident: bb0195 article-title: Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy publication-title: Blood Cells Mol. Dis. contributor: fullname: Hollak – volume: 46 start-page: 103 year: 2011 end-page: 104 ident: bb0080 article-title: mutation and myeloproliferative malignancy in a patient with type 1 Gaucher disease publication-title: Blood Cells Mol. Dis. contributor: fullname: Balwani – year: 2020 Aug 18 ident: bb0200 article-title: Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease publication-title: Liver Int. contributor: fullname: Dalla Salda – volume: 95 start-page: 233 year: 2020 end-page: 237 ident: bb0045 article-title: The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease publication-title: Am. J. Hematol. contributor: fullname: Lee – volume: 139 start-page: 240 year: 2018 end-page: 242 ident: bb0075 article-title: Gaucher disease and myelofibrosis: a combined disease or a misdiagnosis? publication-title: Acta Haematol. contributor: fullname: Giona – volume: 41 start-page: 4 year: 2004 end-page: 14 ident: bb0100 article-title: Therapeutic goals in the treatment of Gaucher disease publication-title: Semin. Hematol. contributor: fullname: Giralt – volume: 83 start-page: 890 year: 2008 end-page: 895 ident: bb0175 article-title: A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase publication-title: Am. J. Hematol. contributor: fullname: vom Dahl – volume: 8 start-page: 71 issue: 2 year: 2019 ident: 10.1016/j.ymgme.2020.12.295_bb0050 article-title: Are there biosimilar orphan drugs for Gaucher disease? An overview in Mexico publication-title: GaBI J. doi: 10.5639/gabij.2019.0802.008 contributor: fullname: Esquivel-Aguilar – volume: 113 start-page: 112 issue: 2 year: 2002 ident: 10.1016/j.ymgme.2020.12.295_bb0025 article-title: Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry publication-title: Am. J. Med. doi: 10.1016/S0002-9343(02)01150-6 contributor: fullname: Weinreb – volume: 41 start-page: 819 issue: 5 year: 2018 ident: 10.1016/j.ymgme.2020.12.295_bb0090 article-title: Hepatocellular carcinoma in Gaucher disease: An international case series publication-title: J. Inherit. Metab. Dis. doi: 10.1007/s10545-018-0142-y contributor: fullname: Regenboog – volume: 95 start-page: 233 issue: 3 year: 2020 ident: 10.1016/j.ymgme.2020.12.295_bb0045 article-title: The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease publication-title: Am. J. Hematol. doi: 10.1002/ajh.25701 contributor: fullname: Drelichman – volume: 91 start-page: 1195 year: 1968 ident: 10.1016/j.ymgme.2020.12.295_bb0110 article-title: Relationship between liver size and body size publication-title: Radiology. doi: 10.1148/91.6.1195 contributor: fullname: DeLand – volume: 46 start-page: 111 issue: 1 year: 2011 ident: 10.1016/j.ymgme.2020.12.295_bb0165 article-title: Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply publication-title: Blood Cells Mol. Dis. doi: 10.1016/j.bcmd.2010.05.001 contributor: fullname: Zimran – volume: 31 start-page: 319 issue: 3 year: 2008 ident: 10.1016/j.ymgme.2020.12.295_bb0065 article-title: Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring publication-title: J. Inherit. Metab. Dis. doi: 10.1007/s10545-008-0779-z contributor: fullname: Cox – volume: 279 start-page: 306 issue: 1 year: 2016 ident: 10.1016/j.ymgme.2020.12.295_bb0115 article-title: Spleen size is significantly influenced by body height and sex: establishment of normal values for spleen size at US with a cohort of 1200 healthy individuals publication-title: Radiology. doi: 10.1148/radiol.2015150887 contributor: fullname: Chow – volume: 68 start-page: 97 year: 2018 ident: 10.1016/j.ymgme.2020.12.295_bb0190 article-title: Growth and final height of children with Gaucher disease: A 15-year follow-up at an Israeli Gaucher center publication-title: Blood Cells Mol. Dis. doi: 10.1016/j.bcmd.2016.11.014 contributor: fullname: Mendelsohn – volume: 139 start-page: 240 issue: 4 year: 2018 ident: 10.1016/j.ymgme.2020.12.295_bb0075 article-title: Gaucher disease and myelofibrosis: a combined disease or a misdiagnosis? publication-title: Acta Haematol. doi: 10.1159/000489251 contributor: fullname: Mariani – volume: 138 start-page: 676 issue: 6 year: 2007 ident: 10.1016/j.ymgme.2020.12.295_bb0070 article-title: Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease publication-title: Br. J. Haematol. doi: 10.1111/j.1365-2141.2007.06701.x contributor: fullname: Hughes – volume: 10 start-page: 34 issue: 1 year: 2013 ident: 10.1016/j.ymgme.2020.12.295_bb0180 article-title: Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: A systematic review publication-title: Nutr. Metab. doi: 10.1186/1743-7075-10-34 contributor: fullname: Doneda – volume: 46 start-page: 103 issue: 1 year: 2011 ident: 10.1016/j.ymgme.2020.12.295_bb0080 article-title: JAK2V617F mutation and myeloproliferative malignancy in a patient with type 1 Gaucher disease publication-title: Blood Cells Mol. Dis. doi: 10.1016/j.bcmd.2010.09.007 contributor: fullname: Webb – volume: 95 start-page: 477 issue: 6 year: 2014 ident: 10.1016/j.ymgme.2020.12.295_bb0130 article-title: Gaucher disease and bone manifestations publication-title: Calcif. Tissue Int. doi: 10.1007/s00223-014-9923-y contributor: fullname: Marcucci – volume: 46 start-page: 107 issue: 1 year: 2011 ident: 10.1016/j.ymgme.2020.12.295_bb0160 article-title: Enzyme replacement therapy “drug holiday”: results from an unexpected shortage of an orphan drug supply in Australia publication-title: Blood Cells Mol. Dis. doi: 10.1016/j.bcmd.2010.05.002 contributor: fullname: Goldblatt – volume: 2 start-page: 175 issue: 2 year: 2000 ident: 10.1016/j.ymgme.2020.12.295_bb0145 article-title: Bone and joint complications related to Gaucher disease publication-title: Curr. Rheumatol. Rep. doi: 10.1007/s11926-000-0059-x contributor: fullname: Pastores – volume: 7 start-page: 117 year: 2013 ident: 10.1016/j.ymgme.2020.12.295_bb0155 article-title: Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 Italian Gaucher type I patients publication-title: JIMD Rep. doi: 10.1007/8904_2012_158 contributor: fullname: Deroma – volume: 83 start-page: 890 issue: 12 year: 2008 ident: 10.1016/j.ymgme.2020.12.295_bb0175 article-title: A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase publication-title: Am. J. Hematol. doi: 10.1002/ajh.21280 contributor: fullname: Weinreb – volume: 122 start-page: 1182 issue: 6 year: 2008 ident: 10.1016/j.ymgme.2020.12.295_bb0185 article-title: Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1 publication-title: Pediatrics. doi: 10.1542/peds.2007-2144 contributor: fullname: Andersson – volume: 40 start-page: 428 issue: 3 year: 2008 ident: 10.1016/j.ymgme.2020.12.295_bb0195 article-title: Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy publication-title: Blood Cells Mol. Dis. doi: 10.1016/j.bcmd.2007.09.002 contributor: fullname: Langeveld – volume: 31 start-page: 337 issue: 3 year: 2008 ident: 10.1016/j.ymgme.2020.12.295_bb0015 article-title: ‘Non-neuronopathic’ Gaucher disease disease patients and a systematic review of the literature publication-title: J. Inherit. Metab. Dis. doi: 10.1007/s10545-008-0832-y contributor: fullname: Biegstraaten – volume: 125 start-page: 64 issue: 1–2 year: 2018 ident: 10.1016/j.ymgme.2020.12.295_bb0095 article-title: Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2018.08.004 contributor: fullname: Nascimbeni – volume: 158 start-page: 528 issue: 4 year: 2012 ident: 10.1016/j.ymgme.2020.12.295_bb0085 article-title: Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years publication-title: Br. J. Haematol. doi: 10.1111/j.1365-2141.2012.09175.x contributor: fullname: Hollak – volume: 11 start-page: 92 issue: 2 year: 2009 ident: 10.1016/j.ymgme.2020.12.295_bb0170 article-title: Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1 publication-title: Genet Med. doi: 10.1097/GIM.0b013e31818e2c19 contributor: fullname: Grabowski – ident: 10.1016/j.ymgme.2020.12.295_bb0055 contributor: fullname: CDC – volume: 90 start-page: 52 issue: 1 year: 2011 ident: 10.1016/j.ymgme.2020.12.295_bb0120 article-title: Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy publication-title: Medicine. doi: 10.1097/MD.0b013e3182057be4 contributor: fullname: Deegan – volume: 10 start-page: 64 year: 2015 ident: 10.1016/j.ymgme.2020.12.295_bb0135 article-title: Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3) publication-title: Orphanet. J. Rare Dis. doi: 10.1186/s13023-015-0280-3 contributor: fullname: Weinreb – volume: 29 start-page: 205 issue: 2 year: 2015 ident: 10.1016/j.ymgme.2020.12.295_bb0105 article-title: The attenuated/late onset lysosomal storage disorders: therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease publication-title: Best Pract. Res. Clin. Endocrinol. Metab. doi: 10.1016/j.beem.2014.08.006 contributor: fullname: Hollak – volume: 90 start-page: 157 issue: 2 year: 2007 ident: 10.1016/j.ymgme.2020.12.295_bb0215 article-title: The long-term international safety experience of imiglucerase therapy for Gaucher disease publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2006.09.003 contributor: fullname: Starzyk – volume: 14 start-page: 453 issue: 2 year: 2005 ident: 10.1016/j.ymgme.2020.12.295_bb0150 article-title: Spanish Group on Gaucher disease. Quality of life related to type 1 Gaucher disease: Spanish experience publication-title: Qual. Life Res. doi: 10.1007/s11136-004-0794-y contributor: fullname: Giraldo – volume: 68 start-page: 211 year: 2018 ident: 10.1016/j.ymgme.2020.12.295_bb0220 article-title: Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy publication-title: Blood Cells Mol. Dis. doi: 10.1016/j.bcmd.2016.10.002 contributor: fullname: Weinreb – volume: 41 start-page: 4 issue: 4 Suppl 5 year: 2004 ident: 10.1016/j.ymgme.2020.12.295_bb0100 article-title: Therapeutic goals in the treatment of Gaucher disease publication-title: Semin. Hematol. doi: 10.1053/j.seminhematol.2004.07.009 contributor: fullname: Pastores – year: 2020 ident: 10.1016/j.ymgme.2020.12.295_bb0200 article-title: Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease publication-title: Liver Int. doi: 10.1111/liv.14640 contributor: fullname: Nascimbeni – volume: 310 start-page: 2191 issue: 20 year: 2013 ident: 10.1016/j.ymgme.2020.12.295_bb0035 article-title: Declaration of Helsinki: Ethical principles for medical research involving human subjects publication-title: JAMA doi: 10.1001/jama.2013.281053 contributor: fullname: World Medical Association – volume: 12 start-page: 1495 issue: 12 year: 2014 ident: 10.1016/j.ymgme.2020.12.295_bb0040 article-title: The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: Guidelines for reporting observational studies publication-title: Int. J. Surg. doi: 10.1016/j.ijsu.2014.07.013 contributor: fullname: von Elm – volume: 122 start-page: 1 year: 2018 ident: 10.1016/j.ymgme.2020.12.295_bb0060 article-title: Mean body weight, height, waist crcumference, and body mass index among adults: United States, 1999-2000 through 2015-2016 publication-title: Natl. Health Stat. Report. contributor: fullname: Fryar – volume: 92 start-page: 929 year: 2017 ident: 10.1016/j.ymgme.2020.12.295_bb0140 article-title: Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry publication-title: Am. J. Hematol. doi: 10.1002/ajh.24801 contributor: fullname: Mistry – volume: 9 start-page: 2343 issue: 8 year: 2020 ident: 10.1016/j.ymgme.2020.12.295_bb0205 article-title: A cross-sectional retrospective study of non-splenectomized and never-treated patients with type 1 Gaucher disease publication-title: J. Clin. Med. doi: 10.3390/jcm9082343 contributor: fullname: Serratrice – volume: 160 start-page: 2835 issue: 18 year: 2000 ident: 10.1016/j.ymgme.2020.12.295_bb0020 article-title: The Gaucher Registry: Demographics and disease characteristics of 1698 patients with Gaucher disease publication-title: Arch. Intern. Med. doi: 10.1001/archinte.160.18.2835 contributor: fullname: Charrow – volume: 147 start-page: 561 issue: 4 year: 2009 ident: 10.1016/j.ymgme.2020.12.295_bb0210 article-title: Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: Effect on incidence of avascular necrosis publication-title: Br. J. Haematol. doi: 10.1111/j.1365-2141.2009.07872.x contributor: fullname: Mistry – volume: 34 start-page: 996 issue: 6 year: 2019 ident: 10.1016/j.ymgme.2020.12.295_bb0125 article-title: Gaucher disease in bone: from pathophysiology to practice publication-title: J. Bone Miner. Res. doi: 10.1002/jbmr.3734 contributor: fullname: Hughes – volume: 36 start-page: 543 issue: 3 year: 2013 ident: 10.1016/j.ymgme.2020.12.295_bb0030 article-title: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment publication-title: J. Inherit. Metab. Dis. doi: 10.1007/s10545-012-9528-4 contributor: fullname: Weinreb – year: 2014 ident: 10.1016/j.ymgme.2020.12.295_bb0010 article-title: Gaucher Disease: Phenotypic and genetic variation contributor: fullname: Grabowski – year: 2014 ident: 10.1016/j.ymgme.2020.12.295_bb0005 article-title: Gaucher disease contributor: fullname: Grabowski |
SSID | ssj0011594 |
Score | 2.5067186 |
Snippet | Alglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report hematologic,... BACKGROUNDAlglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report... |
SourceID | proquest crossref pubmed elsevier |
SourceType | Aggregation Database Index Database Publisher |
StartPage | 100 |
SubjectTerms | Enzyme replacement therapy Gaucher disease Gaucher registry Imiglucerase Long-term outcomes Severity |
Title | Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment |
URI | https://dx.doi.org/10.1016/j.ymgme.2020.12.295 https://www.ncbi.nlm.nih.gov/pubmed/33485799 https://search.proquest.com/docview/2480751701 |
Volume | 132 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1La9tAEB7yoDSX0iZ9uHkwhdJTFWtlraQ9Oqax00IObQO5LZJ2FRSwHCKb4Et-RH5xZlbaQKHtITfZrKxF33jn25lvZgE-q4pYajVKg1yKIiB_G9JVWgXSkq8IhSGbcSrf82R2EX-_lJcbMPG1MCyr7Nf-bk13q3X_zbB_m8Obuh7-EsS-UyIoUReiVpuwzUki2oFtj89-zM6fkgnksV1ymcYHfINvPuRkXuv51ZzbZUbcaOE44nMm_u6g_kVAnSM6fQ2vegaJ426Sb2DDNruwN25o9zxf4xd0mk4XLN-FFyf-6uXEn-y2Bw_TfMVYYZ-dQY7DosC-x2qLXHOCxAzxbDKdoh_90165H8C2K7rCmoVHNBVfXYm1i1C4gGOLXQEkLu_o0xrX9I9qcVHRmJpl8vbWPdjL3N_Cxem335NZ0J_NEJRxGC-DJCzL0oSFrVSm0jA2WVbIOI5VTm9bWiMTReZB_MzmSS6Js4xUVooitCanHVpWjt7BVrNo7AfAyFSpMGRJCdPHlPbkVWJtarLK0Hok7AC-ekD0TdeCQ3tt2rV2-GnGT4tIE34DSDxo-g9L0uQk_n_jJw-xJkA4cZI3drFqdcR195I71w_gfYf900y4klmmSn187mP3YSdinYxTgh_A1vJ2ZQ-J6CyLI9g8vhdHvTk_AvjG_nM |
link.rule.ids | 315,786,790,4516,24137,27946,27947,45609,45703 |
linkProvider | Elsevier |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1NT9wwEB3BVoheqpavLv2aSogTYZNsnMRHuiq7tMCBgsTNSmIHBWmzaLMrtJf-iP7izjgxUqXSQ29J5CRW3sTzPH4zBjiQJbHUcph4mQhyj_ytT0dJ6QlDvsIPNNmMVflexpOb6NutuF2DkcuFYVllN_a3Y7odrbsrg-5rDh6qavAjIPadEEEJ2xC1XIcXxAZ8Nu3jn086D2I8djdEbu1xc1d6yIq8VtO7KRfLDLnMwnHIu0z83T09Rz-tGzp9Da86_ognbRffwJqpt2D7pKa583SFh2gVnTZUvgUbX9zR5sjt67YNv8bZkpHCbm0GOQqLAXYVVhvkjBMkXohno_EYXesrc2cfgE2bcoUVy46oKy63Eisbn7Dhxgbb9EdcPNLZClf0PzU4K6lNxSJ5M7cvdiL3Hbg5_Xo9mnjdzgxeEfnRwov9oii0n5tSpjLxI52muYiiSGb0tYXRIpZkHMTOTBZnghjLUKZFkPtGZzQ_S4vhLvTqWW3eAoa6TAJNdhQzeUxoRl7GxiQ6LTWNRoHpw5EDRD20BTiUU6bdK4ufYvxUECrCrw-xA039YUeKXMS_b_zsIFYECC-bZLWZLRsVcta94Lr1fdhrsX_qCecxi0TK_f997SfYnFxfnKvzs8vv7-BlyIoZqwl_D73FfGk-EOVZ5B-tSf8GPG7_Rg |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Gaucher+disease+type+1+patients+from+the+ICGG+Gaucher+Registry+sustain+initial+clinical+improvements+during+twenty+years+of+imiglucerase+treatment&rft.jtitle=Molecular+genetics+and+metabolism&rft.au=Weinreb%2C+Neal+J.&rft.au=Camelo%2C+Jos%C3%A9+Simon&rft.au=Charrow%2C+Joel&rft.au=McClain%2C+Monica+R.&rft.date=2021-02-01&rft.pub=Elsevier+Inc&rft.issn=1096-7192&rft.eissn=1096-7206&rft.volume=132&rft.issue=2&rft.spage=100&rft.epage=111&rft_id=info:doi/10.1016%2Fj.ymgme.2020.12.295&rft.externalDocID=S1096719221000019 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1096-7192&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1096-7192&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1096-7192&client=summon |