𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Efficacy of a MCT supplementation with galactose restricted diet in an infant with citrin deficiency and a novel variant in the SLC25A13 gene

✍ Scribed by Al Mandhari, Hilal K.; Lefrançois, Marie; Li, Patricia; Morinville, Veronique D.; Al-Hertani, Walla

Book ID
126808369
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
46 KB
Volume
47
Category
Article
ISSN
0009-9120

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Screening of SLC25A13 mutations in early
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations
✍ Naoki Yamaguchi; Keiko Kobayashi; Tomotsugu Yasuda; Ikumi Nishi; Mikio Iijima; M 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 539 KB

We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adultonset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients. Most recently, the SLC25A13 mutations have been detected in neonatal/infantile patients with a type of neon