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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

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