| Agalsidase-beta therapy for advanced Fabry disease: a randomized trial M Banikazemi, J Bultas, S Waldek, WR Wilcox, CB Whitley, M McDonald, ... Annals of internal medicine 146 (2), 77-86, 2007 | 723 | 2007 |
| Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised … HL Levy, A Milanowski, A Chakrapani, M Cleary, P Lee, FK Trefz, ... The Lancet 370 (9586), 504-510, 2007 | 354 | 2007 |
| Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) P Harmatz, CB Whitley, L Waber, R Pais, R Steiner, B Plecko, P Kaplan, ... The Journal of pediatrics 144 (5), 574-580, 2004 | 333 | 2004 |
| Phenylketonuria Scientific Review Conference: state of the science and future research needs KM Camp, MA Parisi, PB Acosta, GT Berry, DA Bilder, N Blau, ... Molecular genetics and metabolism 112 (2), 87-122, 2014 | 303 | 2014 |
| Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. CB Whitley, MD Ridnour, KA Draper, CM Dutton, JP Neglia Clinical chemistry 35 (3), 374-379, 1989 | 243 | 1989 |
| Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant … P Harmatz, R Giugliani, IVD Schwartz, N Guffon, EL Teles, MCS Miranda, ... Molecular genetics and metabolism 94 (4), 469-475, 2008 | 242 | 2008 |
| Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study FK Trefz, BK Burton, N Longo, MMP Casanova, DJ Gruskin, A Dorenbaum, ... The Journal of pediatrics 154 (5), 700-707. e1, 2009 | 233 | 2009 |
| Long‐term outcome of Hurler syndrome following bone marrow transplantation CB Whitley, KG Belani, PN Chang, CG Summers, BR Blazar, MY Tsai, ... American journal of medical genetics 46 (2), 209-218, 1993 | 223 | 1993 |
| Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease B Najafian, E Svarstad, L Bostad, MC Gubler, C Tøndel, C Whitley, ... Kidney international 79 (6), 663-670, 2011 | 209 | 2011 |
| A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy G Silvestri, FM Santorelli, S Shanske, CB Whitley, LA Schimmenti, ... Human mutation 3 (1), 37-43, 1994 | 205 | 1994 |
| Accessory units for consumer electronic devices and related assemblies and methods S Balaji, K Kenney, A Lauder, RM Merritt, M Nashner, SG Smith, ... US Patent 9,315,004, 2016 | 195 | 2016 |
| Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus DG Bichet, M Birnbaumer, M Lonergan, MF Arthus, W Rosenthal, ... American journal of human genetics 55 (2), 278, 1994 | 191 | 1994 |
| Busulfan disposition in children LB Grochow, W Krivit, CB Whitley, B Blazar Blood 75 (8), 1723-1727, 1990 | 175 | 1990 |
| Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome J Tolar, SS Grewal, KJ Bjoraker, CB Whitley, EG Shapiro, L Charnas, ... Bone marrow transplantation 41 (6), 531-535, 2008 | 160 | 2008 |
| Biodistribution and toxicity studies of VSVG-pseudotyped lentiviral vector after intravenous administration in mice with the observation of in vivo transduction of bone marrow D Pan, R Gunther, W Duan, S Wendell, W Kaemmerer, T Kafri, IM Verma, ... Molecular Therapy 6 (1), 19-29, 2002 | 158 | 2002 |
| Clinical features of lysosomal acid lipase deficiency BK Burton, PB Deegan, GM Enns, O Guardamagna, S Horslen, ... Journal of pediatric gastroenterology and nutrition 61 (6), 619-625, 2015 | 146 | 2015 |
| Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human α-L-iduronidase gene SD Hartung, JL Frandsen, D Pan, BL Koniar, P Graupman, R Gunther, ... Molecular Therapy 9 (6), 866-875, 2004 | 139 | 2004 |
| Prolonged expression of a lysosomal enzyme in mouse liver after Sleeping Beauty transposon‐mediated gene delivery: implications for non‐viral gene therapy of … EL Aronovich, JB Bell, LR Belur, R Gunther, B Koniar, DCC Erickson, ... The Journal of Gene Medicine: A cross‐disciplinary journal for research on …, 2007 | 134 | 2007 |
| Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I EA Braunlin, JM Berry, CB Whitley The American journal of cardiology 98 (3), 416-418, 2006 | 134 | 2006 |
| Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings KG Belani, W Krivit, BLM Carpenter, E Braunlin, JJ Buckley, JC Liao, ... Journal of pediatric surgery 28 (3), 403-410, 1993 | 128 | 1993 |
