A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency

scientific article

A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1016/S0009-9120(85)80097-7
P8608Fatcat IDrelease_rbx5ipyxm5dmznggqwsar7jota
P698PubMed publication ID3888441

P2093author name stringCrawhall JC
P2860cites workDetermination of 3-mercaptolactate, mercaptoacetate and N-acetylcysteine in urine by gas chromatographyQ28328898
Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?Q39700920
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolismQ40658100
β-mercaptolactate cysteine disulfiduria in two normal sisters. Isolation and characterization of β-mercaptolactate cysteine disulfideQ42234371
Sulfur amino acids as precursors of β-mercaptolactate-cysteine disulfide in human subjectsQ42237840
2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiencyQ42257414
3-mercaptolactate cysteine disulfiduria: biochemical studies on affected and unaffected members of a familyQ42261429
Two-way separation of amino acids and other ninhydrin-reacting substances by high-voltage electrophoresis followed by paper chromatographyQ42950238
Synthesis of the isomers of the mono- and di-hydroxy-analogues of cystine and comparison with metabolites excreted in the urineQ47634118
Sulfite Oxidase Deficiency in Man: Demonstration of the Enzymatic DefectQ51211953
Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.Q52097025
Sulphocysteine in the Urine of the Blotched Kenya GenetQ59009182
A simple screening test for sulfite oxidase deficiency: Detection of urinary thiosulfate by a modification of sörbo's methodQ66971808
Determination of S-sulfocysteine in urine by high-performance liquid chromatographyQ71071317
Beta mercaptolactate-cysteine disulfide: analog of cystine in the urine of a mentally retarded patientQ72033686
S-(2-hydroxy-2-carboxyethylthio)cysteine and S-(carboxymethyltio)cysteine in human urineQ72067587
Antenatal diagnosis of combined xanthine and sulphite oxidase deficienciesQ72567756
A colorimetric method for the determination of thiosulfateQ74446069
P433issue3
P304page(s)139-142
P577publication date1985-06-01
P1433published inClinical BiochemistryQ5133749
P1476titleA review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency
P478volume18

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cites work (P2860)
Q28585109Antioxidant enzyme, 3-mercaptopyruvate sulfurtransferase-knockout mice exhibit increased anxiety-like behaviors: a model for human mercaptolactate-cysteine disulfiduria
Q33983607Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur