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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

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

Year : 2018| Volume: 66| Issue : 6 | Page no: 1802-1804

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