Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase.

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作者信息

Barth P G, Beemer F A, Cats B P, Duran M, Wadman S K

出版信息

Virchows Arch A Pathol Anat Histopathol. 1985;408(1):105-6. doi: 10.1007/BF00739967.

DOI:10.1007/BF00739967

PMID:3933168

Abstract

摘要

相似文献

Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase.

Virchows Arch A Pathol Anat Histopathol. 1985;408(1):105-6. doi: 10.1007/BF00739967.

Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.钼辅因子缺乏导致亚硫酸盐氧化酶和黄嘌呤脱氢酶联合缺乏的新病例报告。

Eur J Pediatr. 1988 Dec;148(3):246-9. doi: 10.1007/BF00441412.

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.

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.

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.

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

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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

Metab Pediatr Ophthalmol. 1980;4(1):49-52.

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

Lancet. 1983 Dec 10;2(8363):1363-4. doi: 10.1016/s0140-6736(83)91118-2.

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples.

J Inherit Metab Dis. 1991;14(6):932-7. doi: 10.1007/BF01800477.

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.

引用本文的文献

Eur J Pediatr. 1988 Dec;148(3):246-9. doi: 10.1007/BF00441412.

本文引用的文献

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

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

Neuropathologic changes in a case of sulfite oxidase deficiency.

Neurology. 1968 Dec;18(12):1187-96. doi: 10.1212/wnl.18.12.1187.

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

Virchows Arch A Pathol Anat Histopathol. 1985;405(3):379-86. doi: 10.1007/BF00710072.

Absence of hepatic molybdenum cofactor. An inborn error of metabolism associated with lens dislocation.

Ophthalmic Paediatr Genet. 1985 Apr;5(3):191-5. doi: 10.3109/13816818509006133.

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