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5-Oxoprolinase Deficiency

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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "5-Oxoprolinase Deficiency" returned 0 free, full-text research articles. First 0 results:
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
Last Updated: Nov 13, 2018

Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterised by 5-oxoprolinuria. To date, three OPLAH mutations have been described: p.H870Pfs in a homozygous state, which results in a truncated protein, was reported in two siblings, and two heterozygous missense ...

5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
Last Updated: Jul 10, 2012

Gamma-glutamyl cycle is a six-enzyme cycle that represents the primary pathway for glutathione synthesis and degradation. 5-Oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle with only eight patients reported to date. Debate continues as to whether this ...

Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.
Last Updated: Aug 14, 2019

Two female siblings, born to consanguineous parents, presented with a similar phenotype characterized by severe growth and developmental failure, dysmorphic features, thyroid and gonadal dysfunction, autistic traits and hand stereotypes resembling Rett syndrome. In the elder patient, ...

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