A carregar...
A compound heterozygote case of isolated sulfite oxidase deficiency
We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood concentrations and undetectable sulfite oxida...
Na minha lista:
| Publicado no: | Mol Genet Metab Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5501915/ https://ncbi.nlm.nih.gov/pubmed/28725568 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.06.009 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|