Glycogen Storage Disease Type ICharcot-Marie-Tooth DiseaseGlycogen Storage Disease Type IIGlycogen Storage Disease Type IIIGlycogen Storage Disease Type IVNiemann-Pick DiseasesGaucher DiseaseNiemann-Pick Disease, Type CGlycogen Storage DiseaseGlycogen Storage Disease Type VIINiemann-Pick Disease, Type AGlucose-6-PhosphataseGlycogen Storage Disease Type VIalpha-GlucosidasesGlucosylceramidaseGlycogen Storage Disease Type VGlycogen Storage Disease Type VIIIGlycogen Debranching Enzyme SystemGlucan 1,4-alpha-GlucosidaseHepatomegalyHereditary Sensory and Motor NeuropathyNiemann-Pick Disease, Type BMyelin ProteinsAntiportersvon Willebrand Diseases1-DeoxynojirimycinChromosomes, Human, Pair 17Glucose-6-PhosphateEnzyme Replacement TherapyMyelin P0 ProteinSphingomyelin PhosphodiesteraseSural NervePedigreeAdenoma, Liver CellGlycogenGlucosidasesGlycogen Storage Disease Type IIbMutationFructose-1,6-Diphosphatase Deficiencyvon Willebrand Disease, Type 2Polycystic Kidney, Autosomal DominantSplenomegalyGlycine-tRNA LigaseMutation, Missense1,4-alpha-Glucan Branching EnzymeNeural Conductionvon Willebrand FactorExonsMucopolysaccharidosesPhenotypeDNA Mutational AnalysisMonosaccharide Transport ProteinsMolecular Sequence DataMucopolysaccharidosis IIIMyelin SheathSchwann CellsProtein Tyrosine Phosphatases, Non-ReceptorPick Disease of the BrainJewsPeripheral NervesMuscle WeaknessPoint MutationLysosomesDisease Models, AnimalPolymorphism, Single-Stranded ConformationalAge of OnsetLiverHeterozygoteBase SequenceGenetic TherapyHypoglycemiaGenetic LinkageFilipinDependovirusHexosaminidasesCholesterolStarchSphingomyelinsRanvier's NodesCodon, NonsenseFibroblastsChromosome MappingUric AcidDemyelinating DiseasesGenetic MarkersWallerian DegenerationSciatic NervePolymerase Chain ReactionGenotypeAllelesGenes, DominantNeurofilament ProteinsChromosomes, Human, Pair 11Amino Acid SequenceMice, KnockoutGenetic VectorsEndosomesSplenectomyTRPP Cation ChannelsHomozygote