Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13843
Abstract: 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,… read more here.
Keywords: pyridoxamine phosphate; oxidase deficiency; deficiency; phosphate oxidase ... See more keywords
NADPH Oxidase Deficiency: A Multisystem Approach
Sign Up to like & getrecommendations! Published in 2017 at "Oxidative Medicine and Cellular Longevity"
DOI: 10.1155/2017/4590127
Abstract: The immune system is a complex system able to recognize a wide variety of host agents, through different biological processes. For example, controlled changes in the redox state are able to start different pathways in… read more here.
Keywords: medicine; oxidase deficiency; multisystem approach; deficiency multisystem ... See more keywords