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High frequency of large genomic deletions in the PCCA gene causing propionic acidemia

✍ Scribed by Lourdes R. Desviat; Rocío Sanchez-Alcudia; Belén Pérez; Celia Pérez-Cerdá; Rosa Navarrete; Raymon Vijzelaar; Magdalena Ugarte


Book ID
116988606
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
537 KB
Volume
96
Category
Article
ISSN
1096-7192

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Overview of mutations in the PCCA and PC
✍ Magdalena Ugarte; Celia Pérez-Cerdá; Pilar Rodríguez-Pombo; Lourdes R. Desviat; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 296 KB 👁 2 views

Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl-CoA carboxylase, a heteropolymeric mitochondrial enzyme involved in the catabolism of branched chain amino acids, odd-numbered chain length fatty acids, cholesterol, and other metabolites. The enzyme is composed