A carregar...
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing
Carbamoylphosphate synthetase 1 (CPS1) deficiency is a rare inborn error of metabolism leading often to neonatal onset hyperammonemia with coma and high mortality. The biochemical features of the disease are nonspecific and cannot distinguish this condition from other defects of the urea cycle, name...
Na minha lista:
| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7052687/ https://ncbi.nlm.nih.gov/pubmed/32154057 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12091 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|