✦ LIBER ✦

The first reported case of G6PD deficiency due to Seoul mutation in Poland

✍ Scribed by Kaczorowska-Hac, Barbara; Burzynska, Beata; Plochocka, Danuta; Zak-Jasinska, Katarzyna; Rawa, Katarzyna; Adamkiewicz-Drozynska, Elzbieta

Book ID: 121624706
Publisher: Springer
Year: 2013
Tongue: English
Weight: 85 KB
Volume: 93
Category: Article
ISSN: 0939-5555
DOI: 10.1007/s00277-013-1899-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Chronic nonspherocytic hemolytic anemia

Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi

✍ Voravarn S. Tanphaichitr; Akira Hirono; Parichat Pung-amritt; Ajjima Treesucon; 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 138 KB

Identification of a Novel Mutation Combi

Identification of a Novel Mutation Combination in Factor XIII Deficiency: Genetic Update to the First Reported Case in the United States

✍ Amy Halverstadt; Sean Walsh; Stephen M. Roth; Robert E. Ferrell; James M. Hagber 📂 Article 📅 2006 🏛 Carden Jennings Publishing 🌐 English ⚖ 68 KB

The first reported HLCS gene mutation ca

The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient

✍ Joannie Hui, Eric Law, Christina Chung, Simon Fung, Patrick Yuen, Nelson Tang 📂 Article 📅 2011 🏛 SP Children’s Hospital, Zhejiang University School 🌐 English ⚖ 261 KB

CASE REPORT: An inherited APC mutation i

CASE REPORT: An inherited APC mutation in the first reported Australian case of Turcot's syndrome

✍ CONSTANTINE TOMARAS; DOROTHY M PAINTER; NUR J BASHA; DAVID J KOOREY 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 633 KB

The first reported case of human ciguate

The first reported case of human ciguatera possibly due to a farm-cultured salmon

✍ Joanne S.M. Ebesu; Hiroshi Nagai; Yoshitsugi Hokama 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 334 KB

A new case of pyruvate dehydrogenase def

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

✍ Runu Dey; Manuele Mine; Isabelle Desguerre; Abdelhamid Slama; Loic Van Den Bergh 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB 👁 2 views