Results 211 to 220 of about 473,606 (232)
Some of the next articles are maybe not open access.
An inherited arginase deficiency in sheep erythrocytes
The Journal of Agricultural Science, 1977Arginase (EC 3.5.3.1) catalyses the conversion of arginine to ornithine and urea, and is a key enzyme of the urea cycle. The enzyme is present in high activity in various mammalian red cells (Nishibe, 1973, 1974; Owczarczyk & Barej, 1975) and inherited arginase deficiencies have been found in two primate species (Shih et al.
P. C. Wright +3 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
Adult‐onset arginase deficiency
Journal of Inherited Metabolic Disease, 1998Cowley D.M. +4 more
openaire +5 more sources
Arginase deficiency in two brothers
Journal of Inherited Metabolic Disease, 1993M, Candito +7 more
openaire +2 more sources
Arginase deficiency presenting with convulsions
Journal of Inherited Metabolic Disease, 1994J S, Patel +2 more
openaire +2 more sources
Clinical Effect and Safety Profile of Pegzilarginase in Patients With Arginase 1 Deficiency
Journal of Inherited Metabolic Disease, 2021George A Diaz +2 more
exaly
Case Series of Arginase 1 Deficiency: Expanding the Spectrum in Hyperargininemia
Pediatrics International, 2022Cengiz Havalı, Sevil Dorum
exaly
Arginase Deficiency—An Unheralded Cause of Developmental Epileptic Encephalopathy
Epileptic Disorders, 2023Soumya Sundaram +2 more
exaly