Associated Papers
Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.
AlQurashi FO et al.
Frontiers in Pediatrics, 2025
Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
Namavar Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Biochemical and clinical features of hereditary hyperprolinemia.
Mitsubuchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
The three-dimensional structural basis of type II hyperprolinemia.
Srivastava D et al.
Journal of Molecular Biology, 2012
Inborn errors of proline metabolism.
Mitsubuchi H et al.
The Journal of Nutrition, 2008
Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily.
Marchitti SA et al.
Expert Opinion on Drug Metabolism & Toxicology, 2008
Crystal structure of Thermus thermophilus Delta1-pyrroline-5-carboxylate dehydrogenase.
Inagaki E et al.
Journal of Molecular Biology, 2006
Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.
Geraghty MT et al.
Human Molecular Genetics, 1998
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