Disease: Hyperprolinemia type 2
- A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia
- alpha-Tocopherol and ascorbic acid prevent memory deficits provoked by chronic hyperprolinemia in rats
- Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family
- Behavioral and neurochemical effects of proline
- Behavioral changes induced by long-term proline exposure are reversed by antipsychotics in zebrafish
- Biochemical and clinical features of hereditary hyperprolinemia
- Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase
- Dietary treatment in hyperprolinaemia type II
- Drosophila delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDh) is required for proline breakdown and mitochondrial integrity-Establishing a fly model for human type II hyperprolinemia
- Effect of proline on creatine kinase activity in rat brain
- Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome
- Evidence that hyperprolinemia alters glutamatergic homeostasis in rat brain: neuroprotector effect of guanosine
- Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver
- Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness
- FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT
- Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders
- High urinary excretion of N-(pyrrole-2-carboxyl) glycine in type II hyperprolinemia
- Hydroxyproline metabolism in type II hyperprolinaemia
- Hyperleucinisoleucinemia due to partial transamination defect associated with type 2 hyperprolinemia. Familial case of double aminoacidopathy
- HYPERPROLINAEMIA AND HEREDITARY NEPHRITIS
- Hyperprolinaemia type 2
- Hyperprolinaemia type II
- Hyperprolinaemia: a disease which does not need treatment?
- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles
- Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: antioxidant protection
- Hyperprolinemia type II: evidence of the excretion of 3-hydroxy delta 1-pyrroline 5-carboxylic acid
- Hyperprolinemia type II: identification of the glycine conjugate of pyrrole-2-carboxylic acid in urine
- Hyperprolinemic larvae of the drosophilid fly, Chymomyza costata, survive cryopreservation in liquid nitrogen
- Identification of PRODH mutations in Korean neonates with type I hyperprolinemia
- Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
- Inborn errors of proline metabolism
- Inhibition of Na+,K+-ATPase activity from rat hippocampus by proline
- Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome
- Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
- Long-term neuropsychiatric follow-up in hyperprolinemia type I
- Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant
- Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype
- Mitochondrial proline dehydrogenase deficiency in hyperprolinemic PRO/Re mice: genetic and enzymatic analyses
- N-(pyrrole-2-carboxyl) glycine a diagnostic marker of hyperprolinaemia type II: mass spectra of trimethylsilyl derivatives
- Neurotoxicity and metabolism of the catecholamine-derived 3,4-dihydroxyphenylacetaldehyde and 3,4-dihydroxyphenylglycolaldehyde: the role of aldehyde dehydrogenase
- New developments in diagnosis and treatment update: Schizophrenia/first episode psychosis in children and adolescents
- Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis
- Physical exercise reverses cognitive impairment in rats subjected to experimental hyperprolinemia
- Proline administration decreases Na+,K+-ATPase activity in the synaptic plasma membrane from cerebral cortex of rats
- Proline oxidase controls proline, glutamate, and glutamine cellular concentrations in a U87 glioblastoma cell line
- Proline-induced changes in acetylcholinesterase activity and gene expression in zebrafish brain: reversal by antipsychotic drugs
- Proline-induced inhibition of glutamate release in hippocampal area CA1
- Proline-induced potentiation of glutamate transmission
- Psychiatric phenotypes associated with hyperprolinemia: A systematic review
- Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood
- RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA
- Role of antioxidants on Na(+),K (+)-ATPase activity and gene expression in cerebral cortex of hyperprolinemic rats
- Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up
- Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children
- Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily
- Structure, function, and mechanism of proline utilization A (PutA)
- The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD
- The impact of glucose on mitochondria and life span is determined by the integrity of proline catabolism in Caenorhabditis elegans
- The three-dimensional structural basis of type II hyperprolinemia
- Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity
- Type I hyperprolinemia. Study of a familial case
- Type II hyperprolinemia: a case report
- Vitamin B6 related epilepsy during childhood
- Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association