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 TherapyPedigreeMyelin P0 ProteinSural NerveSphingomyelin PhosphodiesteraseAdenoma, Liver CellGlycogenGlucosidasesMutationSymptom AssessmentGlycogen Storage Disease Type IIbSeverity of Illness IndexDepressionFructose-1,6-Diphosphatase DeficiencySplenomegalyPolycystic Kidney, Autosomal DominantNeural Conductionvon Willebrand Disease, Type 2Mutation, MissenseGlycine-tRNA LigasePhenotypeTreatment Outcome1,4-alpha-Glucan Branching EnzymeDNA Mutational AnalysisMolecular Sequence DataExonsvon Willebrand FactorMucopolysaccharidosesAge of OnsetMuscle WeaknessMonosaccharide Transport ProteinsDisease Models, AnimalQuestionnairesMucopolysaccharidosis IIIMyelin SheathTime FactorsSchwann CellsJewsProtein Tyrosine Phosphatases, Non-ReceptorFollow-Up StudiesPeripheral NervesPick Disease of the BrainPoint MutationBehavioral SymptomsHeterozygoteLysosomesBase SequencePsychiatric Status Rating ScalesHypoglycemiaLiverProspective StudiesPolymorphism, Single-Stranded ConformationalGenetic TherapyGenetic LinkageRetrospective StudiesDependovirusCholesterolFilipinStarchHexosaminidasesGenotypeDisease ProgressionSphingomyelinsPolymerase Chain ReactionCodon, NonsenseChromosome MappingAge FactorsDemyelinating DiseasesAffective SymptomsFibroblastsRanvier's NodesQuality of Life