Carregant...
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings
In multiple carboxylase deficiency (MCD), the biotin-dependent carboxylases have decreased activity due to either biotinidase deficiency or holocarboxylase synthetase (HS) deficiency. We report the case of two siblings from Ghana, the first of which presented shortly after birth with profound lactic...
Guardat en:
| Publicat a: | JIMD Rep |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2015
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4375121/ https://ncbi.nlm.nih.gov/pubmed/25690727 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_367 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|