Drago Bratkovic

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Florian Eichler, Christine Duncan, Patricia L. Musolino et al. · New England Journal of Medicine · 2017 · 595 citations

Medicine, Hematology, Neurology +16

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Dominique P. Germain, Derralynn Hughes, Daniel G. Bichet et al. · New England Journal of Medicine · 2016 · 556 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +17

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Benedikt Schoser, Mark Roberts, Barry J. Byrne et al. · The Lancet Neurology · 2021 · 132 citations · Full text

Pharmacy, Internal Medicine, Pharmacotherapy +3

Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplication

Shuancang Yu, Kathleen H. Cox, K. Friend et al. · Clinical Genetics · 2007 · 115 citations

Life Sciences, Genetics, Molecular Genetics +17