Results 31 to 40 of about 415 (137)
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia
Movement Disorders Clinical Practice, Volume 10, Issue 1, Page 109-114, January 2023., 2023 Abstract Background Arginase 1 Deficiency (ARG1‐D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease awareness, ARG1‐D can be diagnosed as hereditary spastic paraplegia (HSP), leading to treatment delays ...
Markey C. McNutt +2 more
wiley +1 more source
mRNA and gene editing: Late breaking therapies in liver diseases
Hepatology, Volume 76, Issue 3, Page 869-887, September 2022., 2022 Abstract The efficient delivery of RNA molecules to restore the expression of a missing or inadequately functioning protein in a target cell and the intentional specific modification of the host genome using engineered nucleases represent therapeutic concepts that are revolutionizing modern medicine.
Nerea Zabaleta +3 more
wiley +1 more source
, 2022 Supplemental material, sj-pdf-1-pat-10.1177_2632010X221093274 for Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children by Anasufiza Habib and Norashareena Mohamed Shakrin in Clinical ...
Anasufiza Habib (12427778) +1 more
core +1 more source
Experimental model of hyperargininemia, Amino acids and guanidino compounds in serum, urine and brain of hyperargininemic rabbit [PDF]
, 1978 A hyperargininemia was induced by oraly administration of arginine in rabbit, and amino acids and guanidino compounds were analysed in the serum, urine and brain.
Suwaki, Sadayoshi, Sadayoshi SUWAKI
core +1 more source
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy [PDF]
, 2015 Hyperammonemia is less severe in arginase 1 deficiency compared with other urea cycle defects. Affected patients manifest hyperargininemia and infrequent episodes of hyperammonemia. Patients typically suffer from neurological impairment with cortical and
Tai, DS +7 more
core +1 more source
Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site [PDF]
, 2011 Hyperargininemia is a rare autosomal recessive disorder of the last step of the urea cycle characterized by a deficiency in liver arginase1. Clinically, it differs from other urea cycle defects by a progressive paraparesis of the lower limbs (spasticity and contractures) with hyperreflexia, neurodevelopmental delay and regression in early childhood ...
Y Haimi, Cohen +5 more
openaire +2 more sources
Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia
, 2020 Argininemia or hyperargininemia is a urea cycle disorder caused by deficiency of the enzyme arginase 1. It is inherited in an autosomal recessive fashion.
Bijarnia-Mahay, Sunita +11 more
core +1 more source