Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

AIM: Molybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. The clinical phenotype is indistinguishable and they can only be differentiate...

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Détails bibliographiques
Publié dans:Eur J Paediatr Neurol
Auteurs principaux: Zaki, Maha S., Selim, Laila, EL-Bassyouni, Hala T., Issa, Mahmoud Y., Mahmoud, Iman, Ismail, Samira, Girgis, Mariane, Sadek, Abdelrahim A., Gleeson, Joseph G., Abdel Hamid, Mohamed S.
Format: Artigo
Langue:Inglês
Publié: 2016
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4993451/
https://ncbi.nlm.nih.gov/pubmed/27289259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejpn.2016.05.011
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