نتایج جستجو برای: hyperprolinemia
تعداد نتایج: 76 فیلتر نتایج به سال:
The increased prevalence of schizophrenia among patients with the 22q11 interstitial deletion associated with DiGeorge syndrome has suggested the existence of a susceptibility gene for schizophrenia within the DiGeorge syndrome chromosomal region (DGCR) on 22q11. Screening for genomic rearrangements of 23 genes within or at the boundaries of the DGCR in 63 unrelated schizophrenic patients and 6...
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk for psychosis and mental retardation. Recently, it has been shown in a hyperprolinemic mouse model that an interaction between two genes localized in the hemideleted region, proline dehydrogenase (PRODH) and catechol-o-methyl-transferase (COMT), could be involved in ...
A severe mentally retarded infant with type I hyperprolinemia associated with chromosomal abnormality is reported. The patient had a characteristic facial appearance of hyperprolinemia and suffered from convulsions after the age of 10 months. The child developed severe mental and motor retardation. The karyotype of the patient revealed partial duplication of the short arm in chromosome 10 using...
BACKGROUND Hyperprolinemia is a rare inherited metabolic disorder characterized by a high proline level in blood and/or urine and various neuropsychiatric symptoms. Type I hyperprolinemia is caused by a proline oxidase deficiency, which is encoded by the PRODH gene on chromosome 22q11. Herein, we present a study of Korean patients with type I hyperprolinemia who were diagnosed during newborn sc...
from five obligate heterozygotes for type II hyperprolinemia. We also demonstrated a reduction in leukocyte AL-pyrroline-5-carboxylic acid dehydrogenase activity in three successive generations of a family. A portion of this work was presented at the Annual Meeting of The Society for Pediatric Research in Washiilgton, D. C., 3 May 1974, and at the National Meeting of The American Society for Cl...
This procedure for determining serum proline in patients with hyperprolinemia involves protein precipitation (Folin-Wu method), color development with isatin, extraction of the color with methylene chloride and measurement of its absorbance at 600 nm. The specificity and analytical recovery show the method to be suitable for this use.
schizophrenia is a complicated, debilitative mental disorder. evidence is emerging for the association of polymorphisms in prodh gene and increased risk of schizophrenia. in the present research, we investigated relationship between of this gene and schizophrenia disease by means of a gene polymorphism using pcr-rflp technique.150 persons suffering from acute schizophrenia and 160 healthy perso...
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