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1967 1
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Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.
Yoldaş TÇ, Gürbüz BB, Akar HT, Özmert EN, Coşkun T. Yoldaş TÇ, et al. Turk J Pediatr. 2021;63(5):767-779. doi: 10.24953/turkjped.2021.05.005. Turk J Pediatr. 2021. PMID: 34738359 Free article.
RESULTS: Six cases with Phenylketonuria, 2 cases with partial Biotinidase Deficiency, 3 cases with Cerebral Creatine Deficiency Syndrome (CCDS), 5 cases with Mucopolysaccharidosis (MPS) Type-3b, 2 cases with MPS Type-3a, 1 case with MPS Type 4, 2 cases with Hypervalinemia …
RESULTS: Six cases with Phenylketonuria, 2 cases with partial Biotinidase Deficiency, 3 cases with Cerebral Creatine Deficiency Syndrome (CC …
Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
Wang XL, Li CJ, Xing Y, Yang YH, Jia JP. Wang XL, et al. J Inherit Metab Dis. 2015 Sep;38(5):855-61. doi: 10.1007/s10545-015-9814-z. Epub 2015 Feb 5. J Inherit Metab Dis. 2015. PMID: 25653144
The first step in BCAA catabolism is catalyzed by branched chain aminotransferase (BCAT). Hypervalinemia and hyperleucine-isoleucinemia caused by BCAT gene mutation in human have not been reported previously. ...This rare case provides great insight into the further unders …
The first step in BCAA catabolism is catalyzed by branched chain aminotransferase (BCAT). Hypervalinemia and hyperleucine-isoleucinem …
Hypervalinemia. A defect in valine transamination.
Dancis J, Hutzler J, Tada K, Wada Y, Morikawa T, Arakawa T. Dancis J, et al. Pediatrics. 1967 Jun;39(6):813-7. Pediatrics. 1967. PMID: 6067402 No abstract available.