Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:JIMD Rep
Autori principali: Sudarsanam, Annapurna, Singh, Harry, Wilcken, Bridget, Stormon, Michael, Arbuckle, Susan, Schmitt, Bernhard, Clayton, Peter, Earl, John, Webster, Richard
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2014
Soggetti:
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !