一名9个月大男童的线粒体乙酰乙酰辅酶A硫解酶缺乏症：ACAT1基因存在新型纯合突变的非典型尿代谢谱。 - Suppr

Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.

作者信息

Sundaram Soumya, Nair Muralidharan, Namboodhiri Sheela, Menon Ramshekhar N

机构信息

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India.

出版信息

Neurol India. 2018 Nov-Dec;66(6):1802-1804. doi: 10.4103/0028-3886.246264.

DOI:10.4103/0028-3886.246264

PMID:30504584

Abstract

摘要

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引用本文的文献

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Hum Mutat. 2019 Oct;40(10):1641-1663. doi: 10.1002/humu.23831. Epub 2019 Jul 3.

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Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.

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Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.

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