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

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

Author information

1
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
2
Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
PMID:
30504584
DOI:
10.4103/0028-3886.246264
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