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.
PMID:30504584
Abstract
摘要
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