Associated Papers
5-Oxoprolinase Deficiency and Epilepsy: A Report of Four Cases with New Clinical Findings and Clinical Diversity Even in the Same Family.
Koseci B et al.
Molecular Syndromology, 2026
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?
Kasapkara ÇS et al.
Molecular Syndromology, 2024
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Yousaf H et al.
Clinical Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO et al.
Molecular Genetics and Metabolism, 2016
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
Li X et al.
Brain & Development, 2015
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
Calpena E et al.
European Journal of Pediatrics, 2015
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.
Calpena E et al.
Jimd Reports, 2013
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
Almaghlouth IA et al.
Clinical Genetics, 2012
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