Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby

BACKGROUND: Molybdenum cofactor deficiency (MOCD) is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or severe brain damage. Symptoms, signs and cerebral images can resemble those attributed to intrapartum hypoxia. In humans, molybdenum cofactor (MOCO) has been...

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Detalles Bibliográficos
Autores principales: Edwards, Matthew, Roeper, Juliane, Allgood, Catherine, Chin, Raymond, Santamaria, Jose, Wong, Flora, Schwarz, Guenter, Whitehall, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329827/
https://www.ncbi.nlm.nih.gov/pubmed/25709896
http://dx.doi.org/10.1016/j.mgene.2014.12.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329827/
https://www.ncbi.nlm.nih.gov/pubmed/25709896
http://dx.doi.org/10.1016/j.mgene.2014.12.003

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