因亚甲基四氢叶酸还原酶（MTHFR）变异导致的同型胱氨酸尿症表现为婴儿震颤综合征。 - Suppr | 超能文献

Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome.

作者信息

Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Shivappa Sanjay K

机构信息

Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, 560029, India.

Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

出版信息

Indian J Pediatr. 2021 Nov;88(11):1153. doi: 10.1007/s12098-021-03899-y. Epub 2021 Aug 4.

DOI:10.1007/s12098-021-03899-y

Abstract

摘要

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本文引用的文献

1

Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.亚甲基四氢叶酸还原酶（MTHFR）基因顺式的严重和轻度突变，以及MTHFR五个新突变的描述。

Am J Hum Genet. 1996 Dec;59(6):1268-75.