Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset Pompe disease PS Kishnani, D Corzo, M Nicolino, B Byrne, H Mandel, WL Hwu, N Leslie, ... Neurology 68 (2), 99-109, 2007 | 886 | 2007 |
A randomized study of alglucosidase alfa in late-onset Pompe's disease. The New England Journal of Medicine 362 (15), 1396-1406, 2010 | 773 | 2010 |
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. PS Kishnani, WL Hwu, H Mandel, M Nicolino, F Yong, D Corzo J Pediatr 148 (5), 671-6, 2006 | 665* | 2006 |
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants PS Kishnani, PC Goldenberg, SL DeArmey, J Heller, D Benjamin, ... Molecular genetics and metabolism 99 (1), 26-33, 2010 | 444 | 2010 |
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 125 (4), e727-735, 2010 | 434 | 2010 |
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. MH Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der Ploeg A, Clancy JP ... Pediatric Research 66 (3), 329-335, 2009 | 368 | 2009 |
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. CYT Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, Herman ... Journal of Pediatrics 149 (1), 89-97, 2006 | 354 | 2006 |
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease M Nicolino, B Byrne, JE Wraith, N Leslie, H Mandel, DR Freyer, GL Arnold, ... Genetics in medicine 11 (3), 210-219, 2009 | 343 | 2009 |
Clinical features of late-onset Pompe disease: a prospective cohort study. LP Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH ... Muscle and Nerve 38 (4), 1236-1245, 2008 | 185* | 2008 |
Elimination of antibodies to recombinant enzyme in Pompe's disease NJ Mendelsohn, YH Messinger, AS Rosenberg, PS Kishnani New England Journal of Medicine 360 (2), 194-195, 2009 | 172 | 2009 |
HLA associations in clozapine-induced agranulocytosis. YEJ Yunis JJ, Corzo D, Salazar M, Lieberman JA, Howard A Blood 86 (3), 1177-1183, 1995 | 139* | 1995 |
Cognitive and behavioral characterization of 16p11.2 deletion syndrome. MDT Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA Journal of Developmental and Behavioral Pediatrics 31 (8), 649-657, 2010 | 127 | 2010 |
Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis. BMJ Gaudet D, Stroes ES, Méthot J, Brisson D, Tremblay K, Bernelot Moens SJ ... Human Gene Therapy 27 (11), 916-925, 2016 | 107 | 2016 |
Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker. MDS Young SP, Zhang H, Corzo D, Thurberg BL, Bali D, Kishnani PS Genetics in Medicine 11 (7), 536-541, 2009 | 97 | 2009 |
Tumor necrosis factor constellation polymorphism and clozapine-induced agranulocytosis in two different ethnic groups. YEJ Turbay D, Lieberman J, Alper CA, Delgado JC, Corzo D, Yunis JJ Blood 89 (11), 4167-4174, 1997 | 94* | 1997 |
The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups. YEJ Corzo D, Yunis JJ, Salazar M, Lieberman JA, Howard A, Awdeh Z, Alper CA Blood 86 (10), 3835-3840, 1995 | 93 | 1995 |
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. KJ Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J ... Molecular Genetics and Metabolism 90 (4), 449-452, 2007 | 86 | 2007 |
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. SSJ Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R ... American Journal of Medical Genetics 70 (6), 1520-1531, 2002 | 81* | 2002 |
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. PAT van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P ... Neuromuscular Disorders 20 (12), 775-782, 2010 | 79 | 2010 |
The cost-effectiveness of initial treatment of multiple myeloma in the U.S. with bortezomib plus melphalan and prednisone versus thalidomide plus melphalan and prednisone or … DMS Garrison LP Jr, Wang ST, Huang H, Ba-Mancini A, Shi H, Chen K, Korves C ... The Oncologist 18 (1), 27-36, 2013 | 68 | 2013 |