HIGHLIGHTS
- who: Suzanne Marie G. Carmona and colleagues from the Department of Pediatrics, Philippine General Hospital, University of the have published the Article: Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing, in the Journal: (JOURNAL)
- what: The couple have undergone several genetic counseling sessions following the results of their tests, which showed that they are heterozygous carriers of a pathogenic mutation in the SLC25A20 gene.
SUMMARY
Mitochondrial fatty_acid oxidation is a major source of energy during fasting and excessive energy expenditure . . .
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