Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2
Background: Glycogen synthase deficiency (glycogen storage disease 0 — GSD 0) caused by mutations in the GYS2 gene is characterized by a lack of glycogen synthesis in the liver. It is a rare condition of disturbed glycogen homeostasis in the liver with less than 30 cases reported in the literature s...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
Elsevier
2015-09-01
|
| মালা: | Molecular Genetics and Metabolism Reports |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | http://www.sciencedirect.com/science/article/pii/S2214426915300215 |
| ট্যাগগুলো: |
কোনো ট্যাগ নেই, প্রথমজন হিসাবে ট্যাগ করুন!
|