| 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 NJ Weinreb, J Charrow, HC Andersson, P Kaplan, EH Kolodny, P Mistry, ... The American journal of medicine 113 (2), 112-119, 2002 | 709 | 2002 |
| The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease J Charrow, HC Andersson, P Kaplan, EH Kolodny, P Mistry, G Pastores, ... Archives of internal medicine 160 (18), 2835-2843, 2000 | 662 | 2000 |
| Phenylalanine hydroxylase deficiency: diagnosis and management guideline J Vockley, HC Andersson, KM Antshel, NE Braverman, BK Burton, ... Genetics in medicine 16 (2), 188-200, 2014 | 643 | 2014 |
| Mutations in the 3β-hydroxysterol Δ24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis HR Waterham, J Koster, GJ Romeijn, RCM Hennekam, P Vreken, ... The American Journal of Human Genetics 69 (4), 685-694, 2001 | 397 | 2001 |
| The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis P Kaplan, HC Andersson, KA Kacena, JD Yee Archives of pediatrics & adolescent medicine 160 (6), 603-608, 2006 | 272 | 2006 |
| Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations J Charrow, HC Andersson, P Kaplan, EH Kolodny, P Mistry, G Pastores, ... The Journal of pediatrics 144 (1), 112-120, 2004 | 210 | 2004 |
| Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1 H Andersson, P Kaplan, K Kacena, J Yee Pediatrics 122 (6), 1182-1190, 2008 | 204 | 2008 |
| Individualization of long-term enzyme replacement therapy for Gaucher disease HC Andersson, J Charrow, P Kaplan, P Mistry, GM Pastores, ... Genetics in Medicine 7 (2), 105-110, 2005 | 185 | 2005 |
| Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients NJ Weinreb, MC Aggio, HC Andersson, G Andria, J Charrow, JTR Clarke, ... Seminars in hematology 41, 15-22, 2004 | 182 | 2004 |
| Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay HC Andersson, L Kratz, R Kelley American journal of medical genetics 113 (4), 315-319, 2002 | 130 | 2002 |
| American College of Medical Genetics and Genomics Therapeutics Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline J Vockley, HC Andersson, KM Antshel, NE Braverman, BK Burton, ... Genet Med 16 (2), 188-200, 2014 | 118 | 2014 |
| Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC) HC Andersson, E Shapira The Journal of pediatrics 132 (1), 121-124, 1998 | 103 | 1998 |
| The 2019 US medical genetics workforce: a focus on clinical genetics BD Jenkins, CG Fischer, CA Polito, DR Maiese, AS Keehn, M Lyon, ... Genetics in Medicine 23 (8), 1458-1464, 2021 | 102 | 2021 |
| Swallowing dysfunction in nephropathic cystinosis BC Sonies, EF Ekman, HC Andersson, MD Adamson, SG Kaler, ... New England Journal of Medicine 323 (9), 565-570, 1990 | 89 | 1990 |
| Long-term outcome in treated combined methylmalonic acidemia and homocystinemia HC Andersson, M Marble, E Shapira Genetics in Medicine 1 (4), 146-150, 1999 | 78 | 1999 |
| Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases B Xiang, H Zhu, Y Shen, DT Miller, K Lu, X Hu, HC Andersson, ... The Journal of Molecular Diagnostics 12 (2), 204-212, 2010 | 77 | 2010 |
| Adrenal insufficiency in Smith‐Lemli‐Opitz syndrome HC Andersson, J Frentz, JE Martínez, CM Tuck‐Muller, J Bellizaire American journal of medical genetics 82 (5), 382-384, 1999 | 74 | 1999 |
| Autism in patients with propionic acidemia P Witters, E Debbold, K Crivelly, KV Kerckhove, K Corthouts, B Debbold, ... Molecular genetics and metabolism 119 (4), 317-321, 2016 | 67 | 2016 |
| FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia I Manoli, JR Sysol, MW Epping, L Li, C Wang, JL Sloan, A Pass, J Gagné, ... JCI insight 3 (23), 2018 | 58 | 2018 |
| Clinical application of microarray-based molecular cytogenetics: an emerging new era of genomic medicine MM Li, HC Andersson The Journal of pediatrics 155 (3), 311-317, 2009 | 51 | 2009 |
Pramod MistryYale University在 yale.edu 的电子邮件经过验证
