Congenital Disorders of GlycosylationMetabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsPhosphotransferases (Phosphomutases)Amino Acid Metabolism, Inborn ErrorsGlycosylationMannosyltransferasesMannose-6-Phosphate IsomeraseMuscle HypertoniaTransferrinMutationDolicholHirschsprung DiseaseProtein Modification, TranslationalLipid Metabolism, Inborn ErrorsPolysaccharidesAbnormalities, MultipleIsoelectric FocusingNeonatal ScreeningInfant, NewbornPurine-Pyrimidine Metabolism, Inborn ErrorsSteroid Metabolism, Inborn ErrorsFucoseLeukocyte-Adhesion Deficiency SyndromeExomeGenetic Diseases, InbornSyndromeFibroblastsPhenotypeMolecular Sequence DataUrea Cycle Disorders, InbornBrain Diseases, Metabolic, InbornOligosaccharidesBipolar DisorderArgininosuccinic AciduriaPedigreeMannoseHyperammonemiaGolgi ApparatusCaroli DiseaseEnergy MetabolismDNA Mutational AnalysisHomozygoteAdaptor Proteins, Vesicular TransportLipid MetabolismCongenital AbnormalitiesIntellectual DisabilityMental DisordersGlucosyltransferasesMutation, MissenseFatal OutcomePhenylketonuriasAmino Acid SequenceAnxiety DisordersMood DisordersGenes, RecessiveSmith-Lemli-Opitz SyndromeBase SequenceSpectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationRefractive ErrorsMembrane ProteinsHomogentisate 1,2-DioxygenaseChromatography, High Pressure LiquidDiagnostic and Statistical Manual of Mental DisordersHomocystinuriaalpha-GalactosidaseCandidiasis, Chronic MucocutaneousCells, CulturedPyruvate Metabolism, Inborn ErrorsFabry DiseaseDisease Models, AnimalOrnithine Carbamoyltransferase Deficiency DiseaseAustralian Capital TerritoryLiverArgininosuccinic AcidCarbohydrate SequenceEndoplasmic ReticulumGlycoproteinsDiagnostic ErrorsIsovaleryl-CoA DehydrogenaseHypophosphatasiaBrain Diseases, MetabolicMethylmalonic AcidMetabolic DiseasesProtein IsoformsPentanoic AcidsCarnitineHydroxocobalaminOxidoreductases Acting on CH-CH Group DonorsDepressive Disorder, MajorMethylmalonyl-CoA MutaseMetal Metabolism, Inborn ErrorsMetabolismSequence Analysis, DNAAttention Deficit Disorder with HyperactivityGlutaratesFructose Metabolism, Inborn ErrorsCHO CellsIron Metabolism DisordersMaple Syrup Urine Disease