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

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作者信息

Desjacques P, Mousson B, Vianey-Liaud C, Boulieu R, Bory C, Baltassat P, Divry P, Zabot M T, Cotte J, Lagier P

出版信息

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

DOI:10.1007/BF01811486

PMID:3930856

Abstract

摘要

相似文献

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.

Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies.黄嘌呤氧化酶和亚硫酸盐氧化酶联合缺乏的产前诊断

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[Combined sulfite and xanthine oxidase deficiency due to an anomaly in the metabolism of molybdenum cofactor].[由于钼辅因子代谢异常导致的亚硫酸盐和黄嘌呤氧化酶联合缺乏症]

Ann Pediatr (Paris). 1986 Nov;33(9):825-8.

Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor.由于钼辅因子缺乏导致的联合黄嘌呤和亚硫酸盐氧化酶缺陷。

J Inherit Metab Dis. 1986;9(4):343-7. doi: 10.1007/BF01800483.

[Sulfite and xanthine oxidase deficiency: a diagnosis based on 2 simple tests].[亚硫酸盐和黄嘌呤氧化酶缺乏症：基于两项简单检测的诊断]

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Combined deficiency of xanthine oxidase and sulfite oxidase; ophthalmological findings in a 3-week-old girl.黄嘌呤氧化酶和亚硫酸盐氧化酶联合缺乏症；一名3周龄女童的眼科检查结果

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Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.由于钼辅因子缺乏导致的黄嘌呤氧化酶和亚硫酸盐氧化酶联合缺乏。

J Inherit Metab Dis. 1996;19(5):700-1. doi: 10.1007/BF01799850.

Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?

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Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor.一例亚硫酸盐氧化酶和黄嘌呤氧化酶联合缺乏伴钼辅因子缺陷病例的解剖病理学发现

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Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion.

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引用本文的文献

Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.两名轻度亚硫酸盐氧化酶缺乏症患者的饮食疗法。临床和生物学改善的证据。

J Inherit Metab Dis. 2000 Feb;23(1):45-53. doi: 10.1023/a:1005646813492.

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.人类钼蝶呤合酶基因：钼辅因子缺乏症B型的基因组结构与突变

Am J Hum Genet. 1999 Mar;64(3):706-11. doi: 10.1086/302296.

Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.

Eur J Pediatr. 1993 Aug;152(8):662-4. doi: 10.1007/BF01955243.

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

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

Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion.

Eur J Pediatr. 1991 Jan;150(3):196-7. doi: 10.1007/BF01963565.

本文引用的文献

Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.钼代谢的先天性缺陷：一名缺乏钼辅因子患者中，亚硫酸盐氧化酶和黄嘌呤脱氢酶的联合缺乏。

Proc Natl Acad Sci U S A. 1980 Jun;77(6):3715-9. doi: 10.1073/pnas.77.6.3715.

High-performance liquid chromatographic determination of hypoxanthine and xanthine in biological fluids.高效液相色谱法测定生物体液中的次黄嘌呤和黄嘌呤

J Chromatogr. 1982 Dec 10;233:131-40. doi: 10.1016/s0378-4347(00)81739-9.

Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.肝钼辅因子缺乏：一种导致亚硫酸盐氧化酶和黄嘌呤脱氢酶联合缺乏的先天性代谢缺陷。

J Inherit Metab Dis. 1983;6 Suppl 1:78-83. doi: 10.1007/BF01811328.

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

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

Purification and properties of sulfite oxidase from human liver.人肝脏亚硫酸盐氧化酶的纯化及性质

J Clin Invest. 1976 Sep;58(3):543-50. doi: 10.1172/JCI108499.

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.

Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?

J Inherit Metab Dis. 1978;1(4):175-8. doi: 10.1007/BF01805591.

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