1993
Short‐term response to dietary therapy in molybdenum cofactor deficiency
Boles R, Ment L, Meyn M, Horwich A, Kratz L, Rinaldo P. Short‐term response to dietary therapy in molybdenum cofactor deficiency. Annals Of Neurology 1993, 34: 742-744. PMID: 7694543, DOI: 10.1002/ana.410340520.Peer-Reviewed Original ResearchConceptsMolybdenum cofactor deficiencyCofactor deficiencyShort-term clinical improvementDietary methionine restrictionUrinary sulphiteClinical relapseClinical improvementLaboratory featuresDietary therapySevere irritabilityLactic acidosisHead growthMethionine restrictionDevelopmental delayCysteine supplementationCommercial dipstickTherapyIrritabilityDeficiencyDevelopmental progressRelapseHypouricemiaAcidosisInfantsMicrocephaly
1990
THE EFFECTS OF EARLY TREATMENT OF HEREDITARY TYROSINEMIA TYPE I IN INFANCY BY ORTHOTOPIC LIVER TRANSPLANTATION
Flye M, RIELY C, HAINLINE B, SASSA S, GUSBERG R, BLAKEMORE K, BARWICK K, HORWICH A. THE EFFECTS OF EARLY TREATMENT OF HEREDITARY TYROSINEMIA TYPE I IN INFANCY BY ORTHOTOPIC LIVER TRANSPLANTATION. Transplantation 1990, 49: 916-921. PMID: 2336709, DOI: 10.1097/00007890-199005000-00017.Peer-Reviewed Original ResearchConceptsOrthotopic liver transplantationLiver transplantationMedical therapyHereditary tyrosinemiaEarly liver transplantationMinimal perioperative complicationsWeeks of ageTyrosinemia type IPerioperative complicationsRapid institutionPoor prognosisNormal dietEarly treatmentMetabolic disordersTransplantationPrompt clearanceAbnormal metabolitesHydrolase deficiencyInfantsMental alertnessProgressive growthTherapyType ITyrosinemiaBiochemical responses