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Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.
Pediatrics. 2011 Jul;128(1):e246-50. doi: 10.1542/peds.2010-3918. Epub 2011 Jun 13.
Pediatrics. 2011.
PMID: 21669895
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
Fukao T, Yamaguchi S, Orii T, Hashimoto T.
Fukao T, et al.
Hum Mutat. 1995;5(2):113-20. doi: 10.1002/humu.1380050203.
Hum Mutat. 1995.
PMID: 7749408
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