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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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Pubblicato in: | JIMD Rep |
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Autori principali: | , , , , , , , , |
Natura: | Artigo |
Lingua: | Inglês |
Pubblicazione: |
Springer Berlin Heidelberg
2014
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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 |
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