Results 101 to 110 of about 415 (137)
Absence of Erythrocyte Arginase Protein in Japanese Patients With Hyperargininemia
European Journal of Pediatrics, 1991 In Japan, hyperargininemia has been reported in only 5 unrelated families and four patients are alive at present. In this study we examined arginase protein in erythrocytes of these Japanese patients using two analytical methods of immunoblotting and two-dimensional gel electrophoresis. Immunoblotting study with anti-E.
M Totani, S Aono, N Mizutani
exaly +4 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia
Pediatrics International, 2022AbstractBackgroundArginase‐1 deficiency is a rare, autosomal recessively inherited disorder of the urea cycle. In this study, we describe the clinical and molecular details of six patients who were diagnosed with argininemia, and we describe two of the patients with hyperargininemia who carried two novel variations of the Arginase‐1 gene.MethodsThe ...
Sevil Dorum, Cengiz Havalı
openaire +2 more sources
Hyperargininemia due to liver arginase deficiency
Molecular Genetics and Metabolism, 2005The urea cycle is a series of six reactions necessary to rid the body of the nitrogen generated by the metabolism, primarily of amino acids, from the diet or released as the result of endogenous protein catabolism. Arginase is the sixth and final enzyme of this cycle.
Eric A, Crombez, Stephen D, Cederbaum
openaire +2 more sources
Neonatal cholestasis: an uncommon presentation of hyperargininemia
Journal of Inherited Metabolic Disease, 2010AbstractHyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final enzyme of the urea cycle and catalyzes the conversion of arginine to urea and ornithine.
Esmeralda, Gomes Martins +4 more
openaire +2 more sources
Clinical, Biochemical, and Molecular Spectrum of Hyperargininemia Due to Arginase I Deficiency [PDF]
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2006 AbstractThe urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. Urea cycle disorders are a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia and hyperglutaminemia.
Brendan Lee, Fernando Scaglia
exaly +3 more sources
Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet
The Journal of Pediatrics, 1984Observation d'une fille de 15 ans souffrant d'un deficit en arginase avec diplegie spastique evolutive, QI a 85 et crises d'hyperammoniemie. L'association benzoate plus restriction en arginine a permis de controler les taux plasmatiques d'ammonium et d'arginine et ulterieurement d'offrir un regime alimentaire un peu plus ...
I A, Qureshi +4 more
openaire +2 more sources
Functional Consequences of the G235R Mutation in Liver Arginase Leading to Hyperargininemia
Archives of Biochemistry and Biophysics, 2002Hyperargininemia is a rare autosomal disorder that results from a deficiency in hepatic type I arginase. This deficiency is the consequence of random point mutations that occur throughout the gene. The G235R patient mutation has been proposed to affect the catalytic activity and structural integrity of the protein [D. E. Ash, L. R. Scolnick, Z.
David E Ash
exaly +3 more sources
Neurotoxicity Of Guanidino Compounds In Hyperargininemia
1989Hyperargininemia is a rare hereditary disorder of the urea cycle due to a deficiency of arginase, which catalyzes arginine to ornithine and urea. This disorder is the most uncommon among the five inborn errors resulting from enzyme deficiencies of the urea cycle.
Naoki Mizutani +5 more
openaire +1 more source
Newborn screening for hyperargininemia due to arginase 1 deficiency
Molecular Genetics and Metabolism, 2017Hyperargininemia caused by Arginase 1 deficiency is a rare disorder of the urea cycle that can be diagnosed by elevation of arginine in newborn screening blood spots when analyzed by tandem mass spectrometry. Hyperargininemia is currently included as a secondary target on the U.S.
Bradford L. Therrell +4 more
openaire +2 more sources
Enzyme, 2017
Arginase deficiency is an inborn error of the last step in the urea cycle and leads to profound hyperargininemia. The enzyme deficiency has been demonstrated in the liver and red blood cells. In cultured patient fibroblasts, the activity is normal. Arginase exists in multiple molecular forms only one of which is missing in hyperargininemic patients. In
L, Konarska +3 more
openaire +2 more sources
Arginase deficiency is an inborn error of the last step in the urea cycle and leads to profound hyperargininemia. The enzyme deficiency has been demonstrated in the liver and red blood cells. In cultured patient fibroblasts, the activity is normal. Arginase exists in multiple molecular forms only one of which is missing in hyperargininemic patients. In
L, Konarska +3 more
openaire +2 more sources