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...

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Detalles Bibliográficos
Autores principales: Brumaru, Daniel, Guerin, Eric, Voegeli, Anne-Claire, Eyer, Didier, Maitre, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501915/
https://www.ncbi.nlm.nih.gov/pubmed/28725568
http://dx.doi.org/10.1016/j.ymgmr.2017.06.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501915/
https://www.ncbi.nlm.nih.gov/pubmed/28725568
http://dx.doi.org/10.1016/j.ymgmr.2017.06.009

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