Associated Papers
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi M et al.
Clinical Genetics, 2021
32888189 (PubMed )
Supplement: CGE-99-99-s003.xlsx › New_addded_cases
[Severe fetal anemia and neonatal epileptic encephalopathy caused by a novel PNPO mutation].
Lloreda-Garcia JM et al.
Revista De Neurologia, 2017
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