Results 1 to 10 of about 475,319 (124)

Refeeding Syndrome in a Young Woman With Argininosuccinate Lyase Deficiency [PDF]

Molecular Genetics and Metabolism Reports, 2015
A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate ...
M. Stuy, G.-F. Chen, J.M. Masonek, B.F. Scharschmidt   +3 more
exaly   +5 more sources

Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression [PDF]

JCI Insight, 2023
Nitric oxide (NO) is a critical signaling molecule that has been implicated in the pathogenesis of neurocognitive diseases. Both excessive and insufficient NO production have been linked to pathology.
Jordan Kho, Urszula Polak, Ming-Ming Jiang, John D. Odom, Jill V. Hunter, Saima M. Ali, Lindsay C. Burrage, Sandesh C.S. Nagamani, Robia G. Pautler, Hannah P. Thompson, Akihiko Urayama, Zixue Jin, Brendan Lee   +12 more
doaj   +3 more sources

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China [PDF]

Orphanet Journal of Rare Diseases
Background Argininosuccinate lyase deficiency (ASLD) is a rare autosomal recessive urea cycle disorder (UCD) resulting from mutations in the ASL gene.
Kaichuang Zhang, Deyun Lu, Lili Liang, Yi Yang, Ruifang Wang, Yuning Sun, Zhuwen Gong, Haijuan Zhi, Wenjuan Qiu, Lianshu Han   +9 more
doaj   +2 more sources

ACOD1 regulates microglial arginine metabolism and inflammatory responses [PDF]

Frontiers in Immunology
Itaconate is produced by inflammatory macrophages and promotes negative feedback on inflammation. It is synthesized by aconitate decarboxylase 1 (ACOD1) from cis-aconitate, a metabolite of the tricarboxylic acid cycle.
Eleftheria Karadima, Canelif Yilmaz, Anupam Sinha, Georgia Fodelianaki, Sofia Dimothyra, Nikolaos Nirakis, Sofia Traikov, Nicola Zamboni, Ben Wielockx, Panayotis Verginis, Mirko Peitzsch, Triantafyllos Chavakis, Vasileia Ismini Alexaki   +12 more
doaj   +2 more sources

Identification of Mutations in Malaysian Patients With Argininosuccinate Lyase (ASL) Deficiency

Molecular Genetics and Metabolism Reports, 2019
Argininosuccinate lyase (ASL) deficiency impairs the function of the urea cycle that detoxifies blood ammonia in the body. Mutation that occurs in the ASL gene is the cause of occurrence of ASL deficiency (ASLD).
Ernie Zuraida Ali, Lock-Hock Ngu
exaly   +3 more sources

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension [PDF]

American Journal of Human Genetics, 2018
Sandesh C S Nagamani, Brendan Lee, Sridevi Devaraj   +2 more
exaly   +2 more sources

Argininosuccinate Lyase Deficiency—Argininosuccinic Aciduria and Beyond [PDF]

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2011
Brendan Lee, Ayelet Erez
exaly   +2 more sources

Argininosuccinate Lyase Deficiency [PDF]

Genetics in Medicine, 2012
Sandesh C S Nagamani, Brendan Lee, Ayelet Erez   +2 more
exaly   +2 more sources

Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency [PDF]

Journal of Inherited Metabolic Disease
Barbara Siri, Roberta Taurisano
exaly   +2 more sources

Indexes of citrulline metabolism in rat liver under the toxic injury against the background of alimentary protein deficiency [PDF]

The Ukrainian Biochemical Journal, 2020
It is known that citrulline is converted into arginine in the series of metabolic transformations. Results of our previous studies showed that acetaminophen-induced toxic injury on the background of the alimentary deprivation of protein is accompanied by
H. P. Kopylchuk, I. M. Nykolaichuk, I. S. Lylyk   +2 more
doaj   +1 more source