Associated Papers
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?
Kasapkara ÇS et al.
Molecular Syndromology, 2024
De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.
McCormack M et al.
European Journal of Medical Genetics, 2020
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
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