Associated Papers
Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease.
Erdal R et al.
Metabolites, 2025
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
Hama R et al.
Human Genome Variation, 2021
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
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R et al.
Clinical Genetics, 2020
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
Wang Y et al.
Scientific Reports, 2017
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Richard AC et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
PRODH polymorphisms, cortical volumes and thickness in schizophrenia.
Ota VK et al.
Plos One, 2014
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A et al.
Human Mutation, 2010
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
Di Rosa G et al.
Psychiatric Genetics, 2008
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A et al.
Brain & Development, 2007
Hyperprolinemia is not associated with childhood onset schizophrenia.
Jacquet H et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006
Hyperprolinemia is a risk factor for schizoaffective disorder.
Jacquet H et al.
Molecular Psychiatry, 2005
Functional consequences of PRODH missense mutations.
Bender HU et al.
American Journal of Human Genetics, 2005