A new case of isolated sulphite oxidase deficiency with rapid fatal outcome.

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作者信息

Vianey-Liaud C, Desjacques P, Gaulme J, Dorche C, Vanlieferinghen P, Dechelotte P, Divry P

机构信息

Laboratoire de Biochimie M. Mathieu, Hôpital Debrousse, Lyon, France.

出版信息

J Inherit Metab Dis. 1988;11(4):425-6. doi: 10.1007/BF01800433.

DOI:10.1007/BF01800433

PMID:3149702

Abstract

摘要

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本文引用的文献

2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiency.

Clin Chim Acta. 1981 Mar 19;111(1):47-53. doi: 10.1016/0009-8981(81)90419-8.

Measurement of xanthine oxidase activity in some human tissues. An optimized method.

Enzyme. 1983;29(1):32-43. doi: 10.1159/000469601.

Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis.

J Inherit Metab Dis. 1985;8 Suppl 2:117-8. doi: 10.1007/BF01811486.

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.

N Engl J Med. 1977 Nov 10;297(19):1022-8. doi: 10.1056/NEJM197711102971902.

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