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
WEINREB, Neal J, CHARROW, Joel, ZIMRAN, Ari, ANDERSSON, Hans C, KAPLAN, Paige, KOLODNY, Edwin H, MISTRY, Pramod, PASTORES, Gregory, ROSENBLOOM, Barry E, SCOTT, C. Ronald, WAPPNER, Rebecca S
Published in The American journal of medicine (01.08.2002)
Published in The American journal of medicine (01.08.2002)
Get full text
Journal Article
Individualization of long-term enzyme replacement therapy for Gaucher disease
Andersson, Hans C., Charrow, Joel, Kaplan, Paige, Mistry, Pramod, Pastores, Gregory M., Prakesh-Cheng, Ainu, Rosenbloom, Barry E., Scott, C Ronald, Wappner, Rebecca S., Weinreb, Neal J.
Published in Genetics in medicine (01.02.2005)
Published in Genetics in medicine (01.02.2005)
Get full text
Journal Article
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
Weinreb, Neal J, Aggio, Mario C, Andersson, Hans C, Andria, Generoso, Charrow, Joel, Clarke, Joe T R, Erikson, Anders, Giraldo, Pilar, Goldblatt, Jack, Hollak, Carla, Ida, Hiroyuki, Kaplan, Paige, Kolodny, Edwin H, Mistry, Pramod, Pastores, Gregory M, Pires, Ricardo, Prakash-Cheng, Ainu, Prakesh-Cheng, Ainu, Rosenbloom, Barry E, Scott, C Ronald, Sobreira, Elisa, Tylki-Szymańska, Anna, Vellodi, Ashok, vom Dahl, Stephan, Wappner, Rebecca S, Zimran, Ari
Published in Seminars in hematology (01.10.2004)
Published in Seminars in hematology (01.10.2004)
Get more information
Journal Article
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
Charrow, Joel, Andersson, Hans C., Kaplan, Paige, Kolodny, Edwin H., Mistry, Pramod, Pastores, Gregory, Prakash-Cheng, Ainu, Rosenbloom, Barry E., Scott, C.Ronald, Wappner, Rebecca S., Weinreb, Neal J.
Published in The Journal of pediatrics (01.01.2004)
Published in The Journal of pediatrics (01.01.2004)
Get full text
Journal Article
The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease
Charrow, J, Andersson, H C, Kaplan, P, Kolodny, E H, Mistry, P, Pastores, G, Rosenbloom, B E, Scott, C R, Wappner, R S, Weinreb, N J, Zimran, A
Published in Archives of internal medicine (1960) (09.10.2000)
Published in Archives of internal medicine (1960) (09.10.2000)
Get more information
Journal Article
Pyruvate carboxylase deficiency—insights from liver transplantation
Nyhan, William L, Khanna, Ajai, Barshop, Bruce A, Naviaux, Robert K, Precht, Andrew F, Lavine, Joel E, Hart, Marquis A, Hainline, Bryan E, Wappner, Rebecca S, Nichols, Sharon, Haas, Richard H
Published in Molecular genetics and metabolism (01.09.2002)
Published in Molecular genetics and metabolism (01.09.2002)
Get full text
Journal Article
Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families
WEXLER, I. D, KERR, D. S, YUEFEN DU, KAUNG, M. M, STEPHENSON, W, LUSK, M. M, WAPPNER, R. S, HIGGINS, J. J
Published in Pediatric research (01.05.1998)
Published in Pediatric research (01.05.1998)
Get full text
Journal Article
Gaucher disease: recommendations on diagnosis, evaluation, and monitoring
Charrow, J, Esplin, J A, Gribble, T J, Kaplan, P, Kolodny, E H, Pastores, G M, Scott, C R, Wappner, R S, Weinreb, N J, Wisch, J S
Published in Archives of internal medicine (1960) (14.09.1998)
Published in Archives of internal medicine (1960) (14.09.1998)
Get more information
Journal Article
Erratum to “Pyruvate carboxylase deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]
Nyhan, William L., Khanna, Ajai, Barshop, Bruce A., Naviaux, Robert K., Precht, Andrew F., Levine, Joel E., Hart, Marquis A., Hainline, Bryan E., Wappner, Rebecca S., Nichols, Sharon, Haas, Richard D.
Published in Molecular genetics and metabolism (01.03.2006)
Published in Molecular genetics and metabolism (01.03.2006)
Get full text
Journal Article
Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase
Kaplan, Paige, Mazur, Alice, Manor, Orly, Charrow, Joel, Esplin, Joan, Gribble, T.John, Wappner, Rebecca S., Wisch, Jeffrey S., Weinreb, Neal J.
Published in The Journal of pediatrics (01.07.1996)
Published in The Journal of pediatrics (01.07.1996)
Get full text
Journal Article
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
Stanley, C A, DeLeeuw, S, Coates, P M, Vianey-Liaud, C, Divry, P, Bonnefont, J P, Saudubray, J M, Haymond, M, Trefz, F K, Breningstall, G N
Published in Annals of neurology (01.11.1991)
Published in Annals of neurology (01.11.1991)
Get more information
Journal Article
Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance
Caldemeyer, K S, Boaz, J C, Wappner, R S, Moran, C C, Smith, R R, Quets, J P
Published in Radiology (01.06.1995)
Published in Radiology (01.06.1995)
Get more information
Journal Article
PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS
NADA, MOHAMED A., VIANEY-SABAN, CHRISTINE, ROE, CHARLES R., DING, JIA-HUAN, MATHIEU, MONIQUE, WAPPNER, REBECCA S., BIALER, MARTIN G., MCGLYNN, JULIE A., MANDON, GINETTE
Published in Prenatal diagnosis (01.02.1996)
Published in Prenatal diagnosis (01.02.1996)
Get full text
Journal Article
A NEW VARIANT OF GALACTOSEMIA
Chacko, Claramma M, Brandt, Ira K, Wappner, Rebecca S, Nadler, Henry L
Published in Pediatric research (01.04.1974)
Published in Pediatric research (01.04.1974)
Get full text
Journal Article
Lactation and phenylketonuria
Bradburn, N C, Wappner, R S, Lemons, J A, Meyer, B A, Roberts, R S
Published in American journal of perinatology (01.04.1985)
Published in American journal of perinatology (01.04.1985)
Get more information
Journal Article