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
1986
Targeting of Nuclear‐Encoded Proteins to the Mitochondrial Matrix: Implications for Human Genetic Defects
ROSENBERG L, FENTON W, HORWICH A, KALOUSEK F, KRAUS J. Targeting of Nuclear‐Encoded Proteins to the Mitochondrial Matrix: Implications for Human Genetic Defects. Annals Of The New York Academy Of Sciences 1986, 488: 99-108. PMID: 3472484, DOI: 10.1111/j.1749-6632.1986.tb54396.x.Peer-Reviewed Original Research