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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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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7371372/ https://ncbi.nlm.nih.gov/pubmed/32802950 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000486 |
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