Molybdenum cofactor deficiency: A natural history

Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [MoCD‐A], MoCD‐B, and MoCD‐C) that cause sulfite intoxication disorders. This natural history study analyzed retrospective data for 58 living or deceased patients (MoCD‐A, n = ...

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Detalles Bibliográficos
Autores principales: Spiegel, Ronen, Schwahn, Bernd C., Squires, Liza, Confer, Nils
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313850/
https://www.ncbi.nlm.nih.gov/pubmed/35192225
http://dx.doi.org/10.1002/jimd.12488

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313850/
https://www.ncbi.nlm.nih.gov/pubmed/35192225
http://dx.doi.org/10.1002/jimd.12488

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