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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: shigematsu y. Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. Orphanet J Rare Dis. 2018. PMID: 30285816 Free PMC article.
Ethylmalonic Encephalopathy in an Indian Boy.
Bijarnia-Mahay S, Gupta D, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: shigematsu y. Indian Pediatr. 2016 Oct 8;53(10):914-916. doi: 10.1007/s13312-016-0959-0. Indian Pediatr. 2016. PMID: 27771676 Free article.
Citrin deficiency: A treatable cause of acute psychosis in adults.
Bijarnia-Mahay S, Häberle J, Rüfenacht V, Shigematsu Y, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: shigematsu y. Neurol India. 2015 Mar-Apr;63(2):220-2. doi: 10.4103/0028-3886.156285. Neurol India. 2015. PMID: 25947987 Free article.
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH, Niu DM, Hoffmann GF, Shigematsu Y, Fukao T, Fukuda S, Taketani T, Yamaguchi S. Shibata N, et al. Among authors: shigematsu y. Mol Genet Metab Rep. 2018 May 21;16:5-10. doi: 10.1016/j.ymgmr.2018.05.003. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29946514 Free PMC article.
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S. Purevsuren J, et al. Among authors: shigematsu y. Mol Genet Metab. 2009 Feb;96(2):77-9. doi: 10.1016/j.ymgme.2008.10.012. Epub 2008 Dec 6. Mol Genet Metab. 2009. PMID: 19064330
Inborn errors of ketone body utilization.
Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T. Hori T, et al. Among authors: shigematsu y. Pediatr Int. 2015;57(1):41-8. doi: 10.1111/ped.12585. Pediatr Int. 2015. PMID: 25559898 Review.
570 results