作者单位：
División de PediatríaEscuela de Medicina, Pontificia Universidad Católica de ChileSantiago,Chile
[1]
Department of GeneticsFederal University of Rio Grande do SulPorto Alegre,Brazil
[2]
Section Cell Biology of Rare Diseases, Department of Osteology and BiomechanicsUniversity Medical
[3]
Willink Biochemical Genetics UnitManchester Centre for Genomic Medicine, Manchester University NHS
[4]
Department of PediatricsCenter for LyMannose phosphorylation in health and diseasesosomal and
[5]
Institute of Human GeneticsUniversity Medical Center Hamburg‐EppendorfHamburg,Germany
[6]
Department of Human GeneticsINSA, National Health Institute Doutor Ricardo JorgePorto,Portugal
[7]
Greenwood Genetic CenterGreenwood,South Carolina
[8]
Genomic Diagnostics LaboratoryManchester Centre for Genomic Medicine, Manchester University NHS
[9]
Laboratorio di Genetica Molecolare e BiobancheIstituto Giannina GasliniGenova,Italy
[10]
Department of Pediatric GeneticsIstanbul University Cerrahpasa, Medicine SchoolIstanbul,Turkey
[11]
International Center for Lysosomal DisordersUniversity Medical Center Hamburg‐EppendorfHamburg
[12]
发布时间
2020-02-11
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