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Pulmonary Manifestations in a Patient with Transaldolase Deficiency,

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Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single D

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Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts,

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Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel , Mu

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Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria,

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A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (,) Ge

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Heterozygous Mutations in the , Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Var

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查看完整版本: Titlebook: JIMD Reports - Volume 12; Johannes Zschocke,K Michael Gibson,Verena Peters Book 2014 SSIEM and Springer International Publishing Switzerla