✦ LIBER ✦

Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism

✍ Scribed by Brian H. Robinson; W. Geoffrey Sherwood; Jennifer Taylor; J. Williamson Balfe; Orval A. Mamer

Book ID: 119457717
Publisher: Elsevier Science
Year: 1979
Tongue: English
Weight: 509 KB
Volume: 95
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(79)80656-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

3-Ketothiolase deficiency: Heterogeneity

3-Ketothiolase deficiency: Heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients

✍ H. Nagasawa; S. Yamaguchi; T. Orii; R. B. H. Schutgens; L. Sweetman; T. Hashimot 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 409 KB

Identification of Alu-mediated, large de

Identification of Alu-mediated, large deletion-spanning exons 2–4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency

✍ Gaixiu Zhang; Toshiyuki Fukao; Satomi Sakurai; Keitaro Yamada; K. Michael Gibson 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 629 KB

Identification of an Alu-mediated tandem

Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

✍ Toshiyuki Fukao; Gaixiu Zhang; Marie-Odile Rolland; Marie-Therese Zabot; Nathali 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 423 KB

Characterization of N93S, I312T, and A33

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

✍ Toshiyuki Fukao; Haruki Nakamura; Xiang-Qian Song; Kozue Nakamura; Kenji E. Orii 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 976 KB

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of ketone body and isoleucine catabolisms. Japanese patients, GK01 and GK19, were found to be compound heterozygotes of 149delC and A333P, and N93S and I312T, respectively. The latter three missense mutations were individually

Development of MLPA for human ACAT1 gene

Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

✍ Fukao, Toshiyuki; Aoyama, Yuka; Murase, Keiko; Hori, Tomohiro; Harijan, Rajesh K 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 519 KB

Mitochondrial acetoacetyl-coenzyme a thi

Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency

✍ Toshiyuki Fukao; Xiang-Qian Song; Seiji Yamaguchi; Tadao Orii; Ronald J. A. Wand 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 567 KB