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
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
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