Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature

The molybdenum cofactor deficiency is an autosomal recessive disease, characterized by rapidly progressive and severe neurological damage that mimics a hypoxic-ischemic encephalopathy due to the accumulation of toxic metabolites that cause rapid neurodegeneration after the delivery. It is eventually...

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Detalles Bibliográficos
Autores principales: Alonzo Martínez, MC, Cazorla, E, Cánovas, E, Anniuk, K, Cores, AE, Serrano, AM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6999763/
https://www.ncbi.nlm.nih.gov/pubmed/32099439
http://dx.doi.org/10.2147/TACG.S239917

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6999763/
https://www.ncbi.nlm.nih.gov/pubmed/32099439
http://dx.doi.org/10.2147/TACG.S239917

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