𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Thiopurine S-methyltransferase deficiency associated with a novel mutation

✍ Scribed by Joana Torres; Antoine Cortot; Lydjie Tremblay; Jean-Fréderic Colombel; Jean-Pierre Jouet; Delphine Allorge; Frank Broly


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
104 KB
Volume
16
Category
Article
ISSN
1078-0998

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Three novel thiopurine S-methyltransfera
✍ Elke Schaeffeler; Michel Eichelbaum; Walter Reinisch; Ulrich M. Zanger; Matthias 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB

The genetic polymorphism of the thiopurine S-methyltransferase, TPMT, comprises at least 21 alleles causing three distinct drug metabolism phenotypes termed normal/high, intermediate, and deficient methylators. In consequence, adverse drug reactions may occur if standard doses of thiopurines are app

Novel mutations associated with carnitin
✍ R. Thomas Taggart; David Smail; Christopher Apolito; Georgirene D. Vladutiu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 485 KB 👁 2 views

The most common form of carnitine palmitoyltransferase II (CPT II) deficiency occurs in adults and is characterized by muscle pain, stiffness, and myoglobinuria, triggered by exercise, fasting, or other metabolic stress. This study reports the molecular heterogeneity of CPT2 mutations and their bioc

Atypical presentation of VLCAD deficienc
✍ Oleg Shchelochkov; Lee-Jun Wong; Aziz Shaibani; Marwan Shinawi 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 504 KB

## Abstract Very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of metabolism characterized by impaired mitochondrial β‐oxidation of fatty acids with a chain length between 14 and 18 carbons. While expansion of newborn screening has improved our ability