Učitavanje...
New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
Ornithine transcarbamylase (OTC) (E.C.2.1.3.3) is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Deficiency of OTC results in neonatal hyperammonemia, coma, and death in childhood. Because fibroblasts do not express OTC, prenatal diagnosis in the past has required...
Spremljeno u:
| Glavni autori: | , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1986
|
| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1684765/ https://ncbi.nlm.nih.gov/pubmed/3004207 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|