Genetic Counseling in a Busy Pediatric Metabolic Practice
Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term complications, discussion of the etiology of the condition, connections to social supports, and clarification of the recurrence risks and prenata...
Saved in:
Published in | Journal of genetic counseling Vol. 20; no. 1; pp. 20 - 22 |
---|---|
Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Boston
Springer US
01.02.2011
Blackwell Publishing Ltd |
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term complications, discussion of the etiology of the condition, connections to social supports, and clarification of the recurrence risks and prenatal testing and treatment options. Our multidisciplinary pediatric metabolic clinic combines the skills of metabolic geneticists, pediatric dieticians, social workers, clinical pharmacists, nurses and genetic counselors to provide optimal and well-rounded care for our patients and their families. Given the inherited nature of most inborn errors of metabolism and the necessary long-term management for these disorders, the genetic counselor’s role in this clinic setting is integral in providing ongoing support and education for patients and their families. This includes coping with the disease burden, helping patients and families adapt to a condition in the family and ensuring adequate understanding of the genetic risks and the available prenatal diagnostic and reproductive choices. Our clinic provides services to a large geographic area with many isolated populations where unique metabolic diseases are highly prevalent secondary to a founder effect. In this paper, we share our experience in providing longitudinal care to children with complex medical needs due to metabolic disorders and highlight the role of the genetic counselor in this clinic setting. |
---|---|
AbstractList | Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term complications, discussion of the etiology of the condition, connections to social supports, and clarification of the recurrence risks and prenatal testing and treatment options. Our multidisciplinary pediatric metabolic clinic combines the skills of metabolic geneticists, pediatric dieticians, social workers, clinical pharmacists, nurses and genetic counselors to provide optimal and well-rounded care for our patients and their families. Given the inherited nature of most inborn errors of metabolism and the necessary long-term management for these disorders, the genetic counselor's role in this clinic setting is integral in providing ongoing support and education for patients and their families. This includes coping with the disease burden, helping patients and families adapt to a condition in the family and ensuring adequate understanding of the genetic risks and the available prenatal diagnostic and reproductive choices. Our clinic provides services to a large geographic area with many isolated populations where unique metabolic diseases are highly prevalent secondary to a founder effect. In this paper, we share our experience in providing longitudinal care to children with complex medical needs due to metabolic disorders and highlight the role of the genetic counselor in this clinic setting. Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term complications, discussion of the etiology of the condition, connections to social supports, and clarification of the recurrence risks and prenatal testing and treatment options. Our multidisciplinary pediatric metabolic clinic combines the skills of metabolic geneticists, pediatric dieticians, social workers, clinical pharmacists, nurses and genetic counselors to provide optimal and well-rounded care for our patients and their families. Given the inherited nature of most inborn errors of metabolism and the necessary long-term management for these disorders, the genetic counselor's role in this clinic setting is integral in providing ongoing support and education for patients and their families. This includes coping with the disease burden, helping patients and families adapt to a condition in the family and ensuring adequate understanding of the genetic risks and the available prenatal diagnostic and reproductive choices. Our clinic provides services to a large geographic area with many isolated populations where unique metabolic diseases are highly prevalent secondary to a founder effect. In this paper, we share our experience in providing longitudinal care to children with complex medical needs due to metabolic disorders and highlight the role of the genetic counselor in this clinic setting.[PUBLICATION ABSTRACT] Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term complications, discussion of the etiology of the condition, connections to social supports, and clarification of the recurrence risks and prenatal testing and treatment options. Our multidisciplinary pediatric metabolic clinic combines the skills of metabolic geneticists, pediatric dieticians, social workers, clinical pharmacists, nurses and genetic counselors to provide optimal and well-rounded care for our patients and their families. Given the inherited nature of most inborn errors of metabolism and the necessary long-term management for these disorders, the genetic counselor's role in this clinic setting is integral in providing ongoing support and education for patients and their families. This includes coping with the disease burden, helping patients and families adapt to a condition in the family and ensuring adequate understanding of the genetic risks and the available prenatal diagnostic and reproductive choices. Our clinic provides services to a large geographic area with many isolated populations where unique metabolic diseases are highly prevalent secondary to a founder effect. In this paper, we share our experience in providing longitudinal care to children with complex medical needs due to metabolic disorders and highlight the role of the genetic counselor in this clinic setting. Adapted from the source document. Abstract Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term complications, discussion of the etiology of the condition, connections to social supports, and clarification of the recurrence risks and prenatal testing and treatment options. Our multidisciplinary pediatric metabolic clinic combines the skills of metabolic geneticists, pediatric dieticians, social workers, clinical pharmacists, nurses and genetic counselors to provide optimal and well‐rounded care for our patients and their families. Given the inherited nature of most inborn errors of metabolism and the necessary long‐term management for these disorders, the genetic counselor's role in this clinic setting is integral in providing ongoing support and education for patients and their families. This includes coping with the disease burden, helping patients and families adapt to a condition in the family and ensuring adequate understanding of the genetic risks and the available prenatal diagnostic and reproductive choices. Our clinic provides services to a large geographic area with many isolated populations where unique metabolic diseases are highly prevalent secondary to a founder effect. In this paper, we share our experience in providing longitudinal care to children with complex medical needs due to metabolic disorders and highlight the role of the genetic counselor in this clinic setting. |
Author | Greenberg, Cheryl R. Hartley, Jessica N. Mhanni, Aizeddin A. |
Author_xml | – sequence: 1 givenname: Jessica N. surname: Hartley fullname: Hartley, Jessica N. organization: Department of Pediatrics and Child Health, University of Manitoba Children’s Hospital – sequence: 2 givenname: Cheryl R. surname: Greenberg fullname: Greenberg, Cheryl R. organization: Department of Pediatrics and Child Health, University of Manitoba Children’s Hospital – sequence: 3 givenname: Aizeddin A. surname: Mhanni fullname: Mhanni, Aizeddin A. email: amhanni@hsc.mb.ca organization: Department of Pediatrics and Child Health, University of Manitoba Children’s Hospital, Department of Pediatrics and Child Health, University of Manitoba |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/20839038$$D View this record in MEDLINE/PubMed |
BookMark | eNqFkU1v1DAQhi1URD_gB3BBERdOKTO2Z20fYQULVav2AGfLSSdVqqxT7I1Q_n29SgEJqdqTR5rneTXWeyqO4hhZiLcI5whgPmYE60wNCLVTUtfzC3GCZFStyLmjMgO52hiAY3Ga8z0AOEv4ShxLsMqBsifCbTjyrm-r9TjFzEMf76o-VqH6POW5uuHbPuxSWV_xLjTjUKabFNoi8GvxsgtD5jdP75n4-fXLj_W3-vJ683396bJuSRLUVlonTZCqaxodEFtyTUfUKYdQ9kRqBcYodha1VbyiwE0j29YGMqA6o87EhyX3IY2_Js47v-1zy8MQIo9T9o70Co0z-iBpV5IcarSHSUJtrKZ95vv_yPtxSrF8eA9JjdJhgXCB2jTmnLjzD6nfhjR7BL9vyi9N-dKU3zfl5-K8ewqemi3f_jX-VFMAswC_-4Hnw4n-YrPWABKKKRczFynecfp38_P3PAJ_Fa0O |
CODEN | JGCOET |
CitedBy_id | crossref_primary_10_3389_fgene_2024_1400295 crossref_primary_10_1038_ejhg_2014_116 crossref_primary_10_1101_cshperspect_a036640 crossref_primary_10_1590_2326_4594_jiems_2021_0001 crossref_primary_10_17755_esosder_300405 crossref_primary_10_1007_s10897_011_9406_5 crossref_primary_10_1007_s10897_014_9713_8 crossref_primary_10_1002_j_2161_0029_2012_00006_x crossref_primary_10_1007_s10897_013_9579_1 crossref_primary_10_2196_23523 |
Cites_doi | 10.1023/A:1015602601091 10.1542/peds.2009-0480 10.1034/j.1399-0004.2001.600501.x 10.1023/A:1005627911682 10.1016/S0738-3991(98)00080-9 10.1542/peds.105.4.843 10.1007/s10897-006-9020-0 10.1177/0145721706286895 |
ContentType | Journal Article |
Copyright | National Society of Genetic Counselors, Inc. 2010 2011 National Society of Genetic Counselors, Inc. National Society of Genetic Counselors, Inc. 2011 |
Copyright_xml | – notice: National Society of Genetic Counselors, Inc. 2010 – notice: 2011 National Society of Genetic Counselors, Inc. – notice: National Society of Genetic Counselors, Inc. 2011 |
DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 0-V 3V. 7QJ 7RV 7X7 7XB 88E 88G 8AO 8FD 8FE 8FH 8FI 8FJ 8FK ABUWG AFKRA ALSLI AN0 AZQEC BBNVY BENPR BHPHI CCPQU DWQXO FR3 FYUFA GHDGH GNUQQ HCIFZ HEHIP K9. KB0 LK8 M0S M1P M2M M2S M7P NAPCQ P64 PQEST PQQKQ PQUKI PRINS PSYQQ Q9U RC3 7X8 7U1 7U2 C1K |
DOI | 10.1007/s10897-010-9324-y |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef ProQuest Social Sciences Premium Collection【Remote access available】 ProQuest Central (Corporate) Applied Social Sciences Index & Abstracts (ASSIA) ProQuest Nursing and Allied Health Journals Health & Medical Collection (Proquest) ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) Psychology Database (Alumni) ProQuest Pharma Collection Technology Research Database ProQuest SciTech Collection ProQuest Natural Science Collection Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central Social Science Premium Collection (Proquest) (PQ_SDU_P3) British Nursing Database ProQuest Central Essentials Biological Science Collection ProQuest Central ProQuest Natural Science Collection ProQuest One Community College ProQuest Central Engineering Research Database Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student SciTech Premium Collection (Proquest) (PQ_SDU_P3) Sociology Collection ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Database (Alumni Edition) Biological Sciences Health & Medical Collection (Alumni Edition) PML(ProQuest Medical Library) Psychology Database (ProQuest) Sociology Database (ProQuest) Biological Science Database Nursing & Allied Health Premium Biotechnology and BioEngineering Abstracts ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic ProQuest One Academic UKI Edition ProQuest Central China ProQuest One Psychology ProQuest Central Basic Genetics Abstracts MEDLINE - Academic Risk Abstracts Safety Science and Risk Environmental Sciences and Pollution Management |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef ProQuest One Psychology ProQuest Central Student Technology Research Database ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College ProQuest Natural Science Collection ProQuest Pharma Collection Applied Social Sciences Index and Abstracts (ASSIA) ProQuest Central China ProQuest Central Genetics Abstracts Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Natural Science Collection ProQuest Central Korea Biological Science Collection ProQuest Sociology Collection ProQuest Sociology ProQuest Medical Library (Alumni) Social Science Premium Collection ProQuest Biological Science Collection ProQuest Central Basic ProQuest One Academic Eastern Edition British Nursing Index with Full Text ProQuest Nursing & Allied Health Source ProQuest Hospital Collection Sociology Collection Health Research Premium Collection (Alumni) ProQuest Psychology Journals (Alumni) Biological Science Database ProQuest SciTech Collection ProQuest Hospital Collection (Alumni) Biotechnology and BioEngineering Abstracts Nursing & Allied Health Premium ProQuest Health & Medical Complete ProQuest Medical Library ProQuest Psychology Journals ProQuest Social Sciences Premium Collection ProQuest One Academic UKI Edition ProQuest Nursing & Allied Health Source (Alumni) Engineering Research Database ProQuest One Academic ProQuest Central (Alumni) MEDLINE - Academic Risk Abstracts Safety Science and Risk Environmental Sciences and Pollution Management |
DatabaseTitleList | MEDLINE ProQuest One Psychology Applied Social Sciences Index and Abstracts (ASSIA) CrossRef Risk Abstracts |
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 – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 3 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Medicine Public Health Psychology |
EISSN | 1573-3599 |
EndPage | 22 |
ExternalDocumentID | 2263499751 10_1007_s10897_010_9324_y 20839038 JGC40020 |
Genre | article Journal Article |
GroupedDBID | --- -4W -56 -5G -BR -Y2 -~C -~X .86 .VR 0-V 04C 06C 06D 0R~ 0VY 1N0 1OB 1OC 1SB 2.D 203 28- 29K 29~ 2J2 2JY 2KG 2KM 2LR 2P1 2VQ 2~H 30V 33P 3V. 4.4 408 409 40D 40E 53G 5GY 5QI 5VS 67N 67Z 6NX 7RV 7X7 88E 8AO 8FE 8FH 8FI 8FJ 8FW 8TC 8UJ 95- 95. 95~ 96X AAAVM AABHQ AAHHS AAIAL AAJKR AANLZ AANXM AARHV AARTL AATVU AAWCG AAWTL AAYIU AAYQN AAYTO ABBBX ABBXA ABHLI ABIVO ABJNI ABJOX ABKTR ABMNI ABNWP ABPLI ABQBU ABTEG ABTHY ABTMW ABULA ABUWG ACCFJ ACCZN ACGFS ACGOF ACHXU ACKNC ACOKC ACOMO ACPRK ACSNA ACXQS ACYUM ADBBV ADBTR ADHHG ADHIR ADIMF ADINQ ADKPE ADKYN ADRFC ADXAS ADZKW ADZMN AEBTG AEEZP AEFIE AEGAL AEGNC AEIGN AEJHL AEKMD AENEX AEOHA AEPYU AEQDE AETLH AEUYR AEXYK AFEXP AFGCZ AFKRA AFLOW AFNRJ AFWTZ AFZKB AGAYW AGGDS AGJBK AGQMX AGWIL AGWZB AGYKE AHAVH AHBYD AHKAY AHMBA AHSBF AHYZX AIIXL AIWBW AJBDE AJBLW AJRNO AKMHD ALMA_UNASSIGNED_HOLDINGS ALSLI ALUQN ALWAN AMKLP AMYDB AMYQR AN0 ARALO ARMRJ ASOEW ASPBG AVWKF AZFZN AZQEC B-. BA0 BBNVY BBWZM BENPR BFHJK BGNMA BHPHI BKEYQ BMSDO BNQBC BPHCQ BVXVI C45 CAG CCPQU COF CS3 CSCUP D-I DCZOG DL5 DU5 DVXWH DWQXO EBD EBS EIHBH EJD EN4 ESBYG EX3 F5P FEDTE FIGPU FNLPD FRRFC FWDCC FYUFA G-Y G-Z GGCAI GGRSB GNUQQ GQ6 GQ7 GQ8 GXS HCIFZ HEHIP HF~ HG5 HG6 HMCUK HMJXF HQYDN HRMNR HVGLF HZ~ I09 IHE IJ- ITM IXC IXE IZIGR IZQ I~X I~Z J-C J0Z JBSCW JCJTX KDC KOV KOW KPH LAK LATKE LEEKS LK8 LYRES M1P M2M M2S M4Y M7P MA- MEWTI N2Q NAPCQ NB0 NDZJH NU0 O-J O9- O93 O9G O9I O9J OAM OVD P19 P2P P2W PCD PF0 PQQKQ PROAC PSQYO PSYQQ PT5 Q2X QOK QOR QOS R-Y R4E R89 R9I RNI ROL RPX RRX RSV RZC RZE RZK S16 S1Z S26 S27 S28 S3A S3B SAMSI SAP SBL SDH SDM SHX SISQX SNE SNX SOJ SPISZ SSXJD SUPJJ SZN T13 T16 TEORI TSG TSK TSV TUC U2A U9L UG4 UKHRP VC2 W23 W48 WJK WK6 WK8 WOW WXSBR YLTOR Z45 Z7U Z82 Z8V ZMU ZOVNA ZZTAW ~A9 ~EX ABQWH AFBBN AFFPM AHBTC AITYG ALIPV H13 HGLYW ZMTXR CGR CUY CVF ECM EIF NPM AAYXX CITATION 7QJ 7XB 8FD 8FK FR3 K9. P64 PQEST PQUKI PRINS Q9U RC3 7X8 7U1 7U2 C1K |
ID | FETCH-LOGICAL-c5250-828927a23fbb4a11c59bf55f391025055360773e981483e65aebb2cc8a5703f73 |
IEDL.DBID | 7X7 |
ISSN | 1059-7700 |
IngestDate | Tue Aug 27 04:38:28 EDT 2024 Fri Aug 16 21:27:25 EDT 2024 Wed Jul 24 14:47:33 EDT 2024 Fri Sep 13 00:37:12 EDT 2024 Fri Aug 23 03:54:48 EDT 2024 Sat Sep 28 07:55:37 EDT 2024 Sat Aug 24 00:54:16 EDT 2024 Sat Dec 16 12:03:04 EST 2023 |
IsDoiOpenAccess | false |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 1 |
Keywords | Inborn errors Genetic counseling Pediatric Multidisciplinary |
Language | English |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c5250-828927a23fbb4a11c59bf55f391025055360773e981483e65aebb2cc8a5703f73 |
Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1 |
OpenAccessLink | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1007/s10897-010-9324-y |
PMID | 20839038 |
PQID | 851241291 |
PQPubID | 31322 |
PageCount | 3 |
ParticipantIDs | proquest_miscellaneous_954617974 proquest_miscellaneous_862591418 proquest_miscellaneous_851478454 proquest_journals_851241291 crossref_primary_10_1007_s10897_010_9324_y pubmed_primary_20839038 wiley_primary_10_1007_s10897_010_9324_y_JGC40020 springer_journals_10_1007_s10897_010_9324_y |
PublicationCentury | 2000 |
PublicationDate | February 2011 |
PublicationDateYYYYMMDD | 2011-02-01 |
PublicationDate_xml | – month: 02 year: 2011 text: February 2011 |
PublicationDecade | 2010 |
PublicationPlace | Boston |
PublicationPlace_xml | – name: Boston – name: United States – name: New York |
PublicationTitle | Journal of genetic counseling |
PublicationTitleAbbrev | J Genet Counsel |
PublicationTitleAlternate | J Genet Couns |
PublicationYear | 2011 |
Publisher | Springer US Blackwell Publishing Ltd |
Publisher_xml | – name: Springer US – name: Blackwell Publishing Ltd |
References | Charron-Prochownik, Sereika, Wang, Ferons-Hannan, Rodgers-Fischl, Hughes-Stewart (CR4) 2003; 32 Hallowell, Murton (CR5) 1998; 35 Abrams, Geier (CR1) 2006; 15 Brenton (CR3) 2000; 23 Lee (CR7) 2002; 25 Skotko, Capone, Kishnani (CR9) 2009; 124 Scriver, Sly, Childs, Beaudet, Valle, Kinzler (CR8) 2001 Biesecker (CR2) 2001; 60 Karp, Grigsby, McSwiggan-Hardin, Pursley-Crotteau, Adams, Bell (CR6) 2000; 105 2001; 60 2002; 25 2009; 124 2001 2000; 23 2000; 105 2003; 32 2006; 15 1998; 35 12137234 - J Inherit Metab Dis. 2002 May;25(3):252-60 9832894 - Patient Educ Couns. 1998 Sep;35(1):27-34 16779676 - J Genet Couns. 2006 Jun;15(3):199-205 10742330 - Pediatrics. 2000 Apr;105(4 Pt 1):843-7 19786436 - Pediatrics. 2009 Oct;124(4):e751-8 11903329 - Clin Genet. 2001 Nov;60(5):323-30 10863938 - J Inherit Metab Dis. 2000 May;23(3):215-28 16554427 - Diabetes Educ. 2006 Mar-Apr;32(2):235-42 e_1_2_2_4_1 e_1_2_2_5_1 e_1_2_2_6_1 e_1_2_2_7_1 Scriver C. R. (e_1_2_2_9_1) 2001 e_1_2_2_10_1 e_1_2_2_2_1 e_1_2_2_3_1 e_1_2_2_8_1 |
References_xml | – year: 2001 ident: CR8 publication-title: The metabolic and molecular bases of inherited disease contributor: fullname: Kinzler – volume: 25 start-page: 252 issue: 3 year: 2002 end-page: 260 ident: CR7 article-title: Growing older: the adult metabolic clinic publication-title: Journal of Inherited Metabolic Disease doi: 10.1023/A:1015602601091 contributor: fullname: Lee – volume: 124 start-page: e751 issue: 4 year: 2009 end-page: e758 ident: CR9 article-title: Postnatal diagnosis of down syndrome: synthesis of the evidence on how best to deliver the news publication-title: Pediatrics doi: 10.1542/peds.2009-0480 contributor: fullname: Kishnani – volume: 60 start-page: 323 issue: 5 year: 2001 end-page: 330 ident: CR2 article-title: Goals of genetic counseling publication-title: Clinical Genetics doi: 10.1034/j.1399-0004.2001.600501.x contributor: fullname: Biesecker – volume: 23 start-page: 215 issue: 3 year: 2000 end-page: 228 ident: CR3 article-title: The adult and adolescent clinic for inborn errors of metabolism publication-title: Journal of Inherited Metabolic Disease doi: 10.1023/A:1005627911682 contributor: fullname: Brenton – volume: 35 start-page: 27 issue: 1 year: 1998 end-page: 34 ident: CR5 article-title: The value of written summaries of genetic consultations publication-title: Patient Education and Counseling doi: 10.1016/S0738-3991(98)00080-9 contributor: fullname: Murton – volume: 105 start-page: 843 issue: 4 Pt 1 year: 2000 end-page: 847 ident: CR6 article-title: Use of telemedicine for children with special health care needs publication-title: Pediatrics doi: 10.1542/peds.105.4.843 contributor: fullname: Bell – volume: 15 start-page: 199 issue: 3 year: 2006 end-page: 205 ident: CR1 article-title: A comparison of patient satisfaction with telehealth and on-site consultations: a pilot study for prenatal genetic counseling publication-title: Journal of Genetic Counseling doi: 10.1007/s10897-006-9020-0 contributor: fullname: Geier – volume: 32 start-page: 235 issue: 2 year: 2003 end-page: 242 ident: CR4 article-title: Reproductive health and preconception counseling awareness in adolescents with diabetes: what they don’t know can hurt them publication-title: The Diabetes Educator doi: 10.1177/0145721706286895 contributor: fullname: Hughes-Stewart – volume: 32 start-page: 235 issue: 2 year: 2003 end-page: 242 article-title: Reproductive health and preconception counseling awareness in adolescents with diabetes: what they don&t know can hurt them publication-title: The Diabetes Educator – volume: 35 start-page: 27 issue: 1 year: 1998 end-page: 34 article-title: The value of written summaries of genetic consultations publication-title: Patient Education and Counseling – volume: 23 start-page: 215 issue: 3 year: 2000 end-page: 228 article-title: The adult and adolescent clinic for inborn errors of metabolism publication-title: Journal of Inherited Metabolic Disease – volume: 25 start-page: 252 issue: 3 year: 2002 end-page: 260 article-title: Growing older: the adult metabolic clinic publication-title: Journal of Inherited Metabolic Disease – volume: 105 start-page: 843 issue: 4 Pt 1 year: 2000 end-page: 847 article-title: Use of telemedicine for children with special health care needs publication-title: Pediatrics – volume: 60 start-page: 323 issue: 5 year: 2001 end-page: 330 article-title: Goals of genetic counseling publication-title: Clinical Genetics – volume: 15 start-page: 199 issue: 3 year: 2006 end-page: 205 article-title: A comparison of patient satisfaction with telehealth and on‐site consultations: a pilot study for prenatal genetic counseling publication-title: Journal of Genetic Counseling – year: 2001 – volume: 124 start-page: e751 issue: 4 year: 2009 end-page: e758 article-title: Postnatal diagnosis of down syndrome: synthesis of the evidence on how best to deliver the news publication-title: Pediatrics – ident: e_1_2_2_4_1 doi: 10.1023/A:1005627911682 – ident: e_1_2_2_8_1 doi: 10.1023/A:1015602601091 – volume-title: The metabolic and molecular bases of inherited disease. year: 2001 ident: e_1_2_2_9_1 contributor: fullname: Scriver C. R. – ident: e_1_2_2_3_1 doi: 10.1034/j.1399-0004.2001.600501.x – ident: e_1_2_2_10_1 doi: 10.1542/peds.2009-0480 – ident: e_1_2_2_5_1 doi: 10.1177/0145721706286895 – ident: e_1_2_2_6_1 doi: 10.1016/S0738-3991(98)00080-9 – ident: e_1_2_2_7_1 doi: 10.1542/peds.105.4.843 – ident: e_1_2_2_2_1 doi: 10.1007/s10897-006-9020-0 |
SSID | ssj0009851 |
Score | 1.9629837 |
Snippet | Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term... Abstract Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long... |
SourceID | proquest crossref pubmed wiley springer |
SourceType | Aggregation Database Index Database Publisher |
StartPage | 20 |
SubjectTerms | Antenatal Biomedical and Life Sciences Biomedicine Child Clinical Psychology Clinics Disease management Ethics Genetic Counseling Genetic counselling Genetic screening Gynecology Health care delivery Human Genetics Humans Inborn errors Metabolic disorders Metabolism Metabolism, Inborn Errors - genetics Multidisciplinary Paediatrics Pediatric Pediatrics Professional Issues Public Health |
SummonAdditionalLinks | – databaseName: SpringerLink Journals (ICM) dbid: U2A link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1LS8NAEB58gAgiWl_1xR48KZFkH0n2WIu1FCoeLPQWNukuiJCKtof8e2eSNFV84Tk7ye7MZPebnf1mAS5cQHxJrjyljfOkCQMvFqnynC8zicFYONHERh7eh_2RHIzVeAV4s3WRP18vMpLlRP2B6xZT4VCcNhBySK9YhXXCDuTJI95ZFtqNyysXCTYgcvSbTOZ3r_i8Fn0BmB-So5-ha7n29HZguwaNrFNZeRdWbN6CjWGdFm_BZjONFS3YqnbiWEUw2gNNlaVRkC3p5-wpZ4bdzN8K1lzVwYZ2hg5Bkg81c2ofRr3bx27fqy9M8DLKThIlXPPIcOHSVJogyJROnVJOICYgqKNE6EeRsDrGIEjYUBmbpjzLYkN1uFwkDmAtn-b2CFjoVChsIDGgCeWEG-P4xJ-g6YSzKCXbcLlQXfJS1cVIlhWQSc8J6jkhPSdFG04Wyk3qX-QtQTsheuA6aANrnqJvU8LC5HY6L5vIKMY-_NKE4rdABvHPTbSSCNMwbmrDYWXYpsccAaj2BQpfLSy97OAvw_FLZ_h74MngrisJkR__6wMnsFltXdOpmVNYm73O7Rlin1l6Xjr7O5Kh9S8 priority: 102 providerName: Springer Nature |
Title | Genetic Counseling in a Busy Pediatric Metabolic Practice |
URI | https://link.springer.com/article/10.1007/s10897-010-9324-y https://onlinelibrary.wiley.com/doi/abs/10.1007%2Fs10897-010-9324-y https://www.ncbi.nlm.nih.gov/pubmed/20839038 https://www.proquest.com/docview/851241291/abstract/ https://search.proquest.com/docview/851478454 https://search.proquest.com/docview/862591418 https://search.proquest.com/docview/954617974 |
Volume | 20 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwhV3da9tADBddC6Uvo-vHlrUr97CnFRPfl-17KmlJUzpSSmkgfTJn-w4KxcnW5CH__SR_pWUse7KxZbiTZN1Pp5ME8N1zypcUOtDG-kDZiAeJzHTgQ5UrdMaiwlA28vguupmo26mebsGozYWhY5WtTawMdTHLaY-8j8gAFxtheN9mtAmQL_oX818BtY-iMGvTS-MD7HCBqAIVO57G6-q7SdWHkbAEwsmwC2_WOXQJFSRFc4RQRgWr9wvUX6jzTcT0PZ6tFqTrffjYIEk2qEX_CbZceQC74yZWfgB7nW1bHYKh8tJIyNY56Oy5ZJZdLl9XrOvXwcZugVrxgnf3TfrUEUyuh49XN0HTNSHIKURJeeFGxFZIn2XKcp5rk3mtvURgQHhHyyiMY-lMgp6QdJG2LstEnieWinH5WB7Ddjkr3RdgkdeRdFyhVxOpQljrRREWKD_pHX6levCjZVU6r4tjpOsyyMTXFPmaEl_TVQ9OWmamzX_ymnZS7QHr3qKCU9TClm62rEhUnOAYNpCQE8cVT_5NYrRCrIbOUw8-14LsRkz6YkKJH5-3kl0PcMN0wkr4_594eju6UgTLv27kwAns1fvVdFTmFLYXv5fuGwKeRXZWKfMZ7AxGTz-HeL0c3t0_4NOJGPwBC3D65g |
link.rule.ids | 315,786,790,12083,21416,27957,27958,31754,31755,33779,33780,41116,41558,42185,42627,43345,43840,52146,52269 |
linkProvider | ProQuest |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwhV3dT9swED9BKwEvaMA2Sjfww56YoiWxncRPaCCgMFohBBJvlpPY0iSUAm0f-t9zl7jp0LTuLVLOkn1nn3_n-wL45iLKl4xlIJVxgTBJFGQ8l4ELRSHQGEtKRdnIw1EyeBDXj_LRx-ZMfFjlQifWirocF_RG_gORAV42sYpOnl8CahpFzlXfQWMduoKjpdKB7un56PZuWXU3q_svEoZAGBm2bs0mdy6jQqSohhDCiGD-_mL6C23-4Sl9j2Pri-jiA2x7BMl-NiLfgTVb7cLG0PvId2Gr1WnzPVBUVhoJ2TL3nP2umGGns8mctX062NBOcTc84detT5v6CA8X5_dng8B3SwgKck1SPriKUxNzl-fCRFEhVe6kdBwBAeEcyZMwTblVGVpA3CbS2DyPiyIzVITLpfwTdKpxZfeBJU4m3EYCrZlElLExLi7DEuXGncVRogfHC1bp56Yohl6WPya-auSrJr7qeQ_6C2Zqfz4mupVmD1j7Fzc2eStMZcezmkSkGc5hBQkZb5GIsn-TKCkQo6HR1IPPjSDbGceIPlXIcfD3hWSXE1yxnLAW_v8Xrq8vzwTB8YOVHDiCzcH98EbfXI1-9WGrebOmcJkv0Jm-zuxXBD3T_NBv7Tdhu_do |
linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1LT9wwEB7xkBASQrBAWZZSH3oCRSR-JPFxod1S2kUcuhI3y0lsqZeA2N3D_ntm8lpQKYhz7MSemdjfePzNAHz1EfEluQqUtj6QNo6CVGQq8KHMJTpjcaGJjTy-ia8m8vpO3TV1Tqftbfc2JFlzGihLUzk7fyj8-TPiW0pZRHENQfwhg8UqrNPOSHe6Jny4zLqbVvUXCUMgjAy7sOZrr3i5Mf2DNp9FSl_i2GojGu3AdoMg2bBW-S6suLIHG-MmRt6DzW5NW_Rgqz6WYzXbaA80pZnGjmzJRWd_S2bZxXy6YF3dDjZ2M7QO6nnb0Kj2YTL6_ufyKmiqJwQ5hSqJH655YrnwWSZtFOVKZ14pLxAgEO5RIg6TRDidokckXKysyzKe56mlpFw-EQewVt6X7hBY7FUsXCTRu4llwa31vAgL1KPwDnvJPpy2ojMPdZIMs0yHTHI2KGdDcjaLPgxa4Zrmf5ka1BNCCa6jPrDuKRo6RS9s6e7nVROZpDiGN5qQMxfJKP1_E60kYjZ0ovrwqVZsN2KOaFSHAjuftZpeDvCN6YSVMbw_cXP941ISPD_60Ae-wMbtt5H5_fPm1wA26yNtuk1zDGuzx7n7jJholp1Udv8ESZr8zw |
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=Genetic+counseling+in+a+busy+pediatric+metabolic+practice&rft.jtitle=Journal+of+genetic+counseling&rft.au=Hartley%2C+Jessica+N&rft.au=Greenberg%2C+Cheryl+R&rft.au=Mhanni%2C+Aizeddin+A&rft.date=2011-02-01&rft.eissn=1573-3599&rft.volume=20&rft.issue=1&rft.spage=20&rft.epage=22&rft_id=info:doi/10.1007%2Fs10897-010-9324-y&rft.externalDBID=NO_FULL_TEXT |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1059-7700&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1059-7700&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1059-7700&client=summon |