abnormalitiesacidacidaemiaaciduriaacuteadultadultsaldalkaptonuriaanalysisapproacharginasebarthbeyondbh4biomarkercasecausedcbscdgchainchangeschildchildrenclassicclinicalcoacohortcongenitalcsfcycledeficiencydehydrogenasedelaydependentdevelopmentaldiagnosingdiagnosisdiagnosticdietarydiseasedisorderdisordersdonearlyepilepsyepisodiceveryoneexpandingfailurefirstfootprintsfuturegabriellagalactosaemiagalactosemiagenegenomicglycerolglycogenglycosylationgsdguidelineshepaticheterozygoushighhomocysteinehorvathidentifiediiiimdinfantileinheritedinsightsisolatedisoleucinejourneykinaselatelchaddlessonslinkedliverlonglsdlysosomalmanagementmanagingmcardlemedicinemetabolicmetabolismmethylmalonicmissensemitochondrialmldmmamngiemodelmodellingmousemovementmpsmsudmthfrmysteriesneedsneonatalneurologicalnewbornnoveloldonsetoralotcoutcomespatientpatientspenetrancepgm1phenotypephenotypicphenylbutyratephenylketonuriapilotpkuplasmapompepopulationporphyriapostpregnancypresentationsprevalenceprogrampropionicproteinpsychosocialpyridoxinerecurrentreductionrelatedreplacementresearchrespiratoryreviewroundscreeningshortcastsiblingsspecialspectrumspeechstoragestudysuccessfulsymptomssyndrometakingtalkingtango2therapiestherapytowardstransplantationtreatedtreatmenttrifunctionaltypeureaurineusevalinevariantvariantswesyearyears