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
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S5__MITNGS_S5_
Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.
Fares E et al.
Frontiers in Genetics, 2023
38028607 (PubMed )
Supplement: Table1.XLSX › Sheet1
Biochemical and clinical features of hereditary hyperprolinemia.
Mitsubuchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Crystal structure of Thermus thermophilus Delta1-pyrroline-5-carboxylate dehydrogenase.
Inagaki E et al.
Journal of Molecular Biology, 2006
Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease.
Vasiliou V et al.
Pharmacology, 2000
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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