Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency-Reference-Cited by-同舟云学术

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

Published:2016-12-08 Issue: Volume: Page:59-65
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Abdelkreem Elsayed,Akella Radha Rama Devi,Dave Usha,Sane Sudhir,Otsuka Hiroki,Sasai Hideo,Aoyama Yuka,Nakama Mina,Ohnishi Hidenori,Mahmoud Shaimaa,Abd El Aal Mohamed,Fukao Toshiyuki

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2016_26

Reference20 articles.

1. Abdelkreem E, Otsuka H, Sasai H et al (2016) Beta-ketothiolase deficiency: resolving challenges in diagnosis. J Inborn Errors Metab Screen 4:1–9

2. Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T (2014) Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. Brain Dev 36:537–540

3. Dave Usha P, Das Bibhu R (2010) Newborn screening – from “Guthrie age to Genomic age”. J Obstet Gynaecol India 60:210–214

4. Finka A, Mattoo RU, Goloubinoff P (2016) Experimental milestones in the discovery of molecular chaperones as polypeptide unfolding enzymes. Annu Rev Biochem 85:715–742

5. Fukao T, Yamaguchi S, Kano M et al (1990) Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. J Clin Invest 86:2086–2092

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