Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency

OBJECTIVE: To define the phenotypic spectrum of isolated sulfite oxidase (ISOD) and molybdenum cofactor deficiency (MoCD), aiming to promote timely diagnosis and assist in future clinical trial design. METHODS: We analyzed clinical, radiographic, biochemical, and genetic data from 146 patients repor...

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Detalles Bibliográficos
Autores principales: Misko, Albert L., Liang, Ye, Kohl, Joshua B., Eichler, Florian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371372/
https://www.ncbi.nlm.nih.gov/pubmed/32802950
http://dx.doi.org/10.1212/NXG.0000000000000486

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371372/
https://www.ncbi.nlm.nih.gov/pubmed/32802950
http://dx.doi.org/10.1212/NXG.0000000000000486

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