PPM1K defects cause mild maple syrup urine disease: The second case in the literature.

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第一作者： Firat,Ozcelik

第一单位： Department of Medical Genetics, Erciyes University, Kayseri, Turkey.

作者： Firat,Ozcelik ^[1] ; Sezai,Arslan ^[2] ; Busra,Ozguc Caliskan ^[1] ; Fatih,Kardas ^[2] ; Yusuf,Ozkul ^[1] ; Munis,Dundar ^[1]

作者单位： Department of Medical Genetics, Erciyes University, Kayseri, Turkey. ^[1] Division of Nutrition and Metabolism, Department of Pediatrics, Erciyes University, Kayseri, Turkey. ^[2]

关键词 PPM1K genotype-phenotype correlation maple syrup urine disease next-generation sequencing

主题词人类(Humans);3-甲基-2-氧代丁酸脱氢酶(硫辛酰胺)(3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide));氨基酸类, 支链(Amino Acids, Branched-Chain);纯合子(Homozygote);枫糖尿病(Maple Syrup Urine Disease);突变(Mutation)

DOI 10.1002/ajmg.a.63129

PMID 36706222

发布时间 2023-10-27

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American journal of medical genetics. Part A

2023年191卷5期

1360-1365页

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PPM1K defects cause mild maple syrup urine disease: The second case in the literature.

American journal of medical genetics. Part A

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PPM1K defects cause mild maple syrup urine disease: The second case in the literature.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

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