Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency

We report the case of an 8-year-old boy with pyridoxamine 5′-phosphate oxidase (PNPO) deficiency. He developed seizures at 24 h of age that were refractory to standard anticonvulsant therapy and a trial of pyridoxine but responded to pyridoxal phosphate (PLP) at 28 days of life. Genetic testing iden...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Sudarsanam, Annapurna, Singh, Harry, Wilcken, Bridget, Stormon, Michael, Arbuckle, Susan, Schmitt, Bernhard, Clayton, Peter, Earl, John, Webster, Richard
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4241198/
https://ncbi.nlm.nih.gov/pubmed/25256445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_338
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