Yüklüyor......
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
BACKGROUND: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL. METHOD: We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom re...
Kaydedildi:
| Yayımlandı: | Orphanet J Rare Dis |
|---|---|
| Asıl Yazarlar: | , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2020
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7023732/ https://ncbi.nlm.nih.gov/pubmed/32059735 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1319-7 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|