生物素酶缺乏所致的生物素反应性3-甲基巴豆酰甘氨酸尿症。 - Suppr

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超能文献

Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.

作者信息

Greter J, Holme E, Lindstedt S, Koivikko M

出版信息

J Inherit Metab Dis. 1985;8 Suppl 2:103-4. doi: 10.1007/BF01811479.

DOI:10.1007/BF01811479

PMID:3930850

Abstract

摘要

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引用本文的文献

Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency.生物素酶缺乏症患者补充生物素后严重颅脑CT扫描异常表现恢复正常。

Eur J Pediatr. 1994 Nov;153(11):861-2. doi: 10.1007/BF01972899.

本文引用的文献

[PURIFICATION AND PROPERTIES OF BIOTINIDASE FROM SWINE KIDNEY AND LACTOBACILLUS CASEI].

Biochem Z. 1963;338:599-613.

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.生物素酶缺乏症：迟发性多种羧化酶缺乏症中的酶缺陷。

Clin Chim Acta. 1983 Jul 15;131(3):273-81. doi: 10.1016/0009-8981(83)90096-7.

Biotin deficiency with neurologic and cutaneous manifestations but without organic aciduria.伴有神经和皮肤表现但无有机酸尿症的生物素缺乏症。

J Pediatr. 1983 Aug;103(2):265-7. doi: 10.1016/s0022-3476(83)80363-1.

Phenotypic variation in biotinidase deficiency.生物素酶缺乏症的表型变异。

J Pediatr. 1983 Aug;103(2):233-7. doi: 10.1016/s0022-3476(83)80351-5.

A screening method for biotinidase deficiency in newborns.一种新生儿生物素酶缺乏症的筛查方法。

Clin Chem. 1984 Jan;30(1):125-7.

Biotin in man's nutrition and therapy -- a review.生物素在人类营养与治疗中的应用——综述

Int J Vitam Nutr Res. 1977;47(2):107-18.

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