Expert recommendations for the laboratory diagnosis of MPS VI
Timothy C. Wood(Greenwood Genetic Center), Paul Harmatz(Unknown), Maira Graeff Burin(Hospital de Clínicas de Porto Alegre), Vânia D’Almeida(Universidade Federal de São Paulo), David Ketteridge(Women's and Children's Hospital), Nancy J. Mendelsohn, Wuh‐Liang Hwu(MRC Epidemiology Unit), Michael Fietz(South Australia Pathology), Kees Schoonderwoerd(Erasmus MC), Nicole L. Miller(Vanderbilt University Medical Center), Zoltán Lukács(Universität Hamburg), Christian J. Hendriksz(Birmingham Children's Hospital), R. Giugliani(Universidade Federal do Rio Grande do Sul), Olaf A. Bodamer(Broad Institute), Marzia Pasquali(University of Utah), Andrea Schenone(Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia), Bryan Winchester(Great Ormond Street Hospital), Sara M. Hawley(BioMarin (United States))
Cited by 49
Related Papers
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|823
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
|Neuromuscular Disorders|2019|636
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
|European Journal of Pediatrics|2007|535
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
|Molecular Genetics and Metabolism|2012|478
Biparental Inheritance of Mitochondrial DNA in Humans
|Proceedings of the National Academy of Sciences|2018|451