Beta-Ketothiolase Deficiency as A Treatable Neurometabolic Disorder: A Case Report Due to A Novel Compound Heterozygote Mutations in ACAT1 Gene
Mahmoud Reza Ashrafi,
Ali Reza Tavasoli and
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Reyhaneh Mohsenipour: Growth and Development Research Center, Division of Endocrinology and Metabolism, Childrenâ€™s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Ali Reza Tavasoli: Myelin Disorders Clinic, Pediatric Neurology Division, Childrenâ€™s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
Masoud Garshasbi: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Biomedical Journal of Scientific & Technical Research, 2019, vol. 15, issue 3, 1-4
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency (OMIM#203750, *607809) is a rare inherited disorder of isoleucine amino acid catabolism and ketone body metabolism...
Keywords: Biomedical Sciences; Biomedical Research; Technical Research (search for similar items in EconPapers)
JEL-codes: R00 Z0 (search for similar items in EconPapers)
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:15:y:2019:i:3:p:1-4
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