Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency

Pyridoxamine‐5′‐phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5′‐phosphate (PLP)‐vitamin‐responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. Pre‐maturity and fetal distress, combine...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Alghamdi, Malak, Bashiri, Fahad A., Abdelhakim, Marwa, Adly, Nouran, Jamjoom, Dima Z., Sumaily, Khalid M., Alghanem, Bandar, Arold, Stefan T.
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2020
Assuntos:
Reviews
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7820968/
https://ncbi.nlm.nih.gov/pubmed/32888189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13843
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