Results 51 to 60 of about 475,319 (124)
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria [PDF]
, 2013 Argininosuccinic aciduria (ASA) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate lyase (ASL) with a wide clinical spectrum from asymptomatic to severe hyperammonemic neonatal onset life-threatening courses.
Rüfenacht, Véronique +7 more
core +2 more sources
Amino Acid Metabolism in Health and Disease
MedComm, Volume 7, Issue 9, September 2026.This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su +7 more
wiley +1 more source
Ammonia Metabolism in the Aging Liver: Emerging Mechanistic Insights
Aging Cell, Volume 25, Issue 8, August 2026.Liver aging may weaken ammonia‐detoxification reserve by disrupting mitochondrial ureagenesis, GS‐mediated scavenging, glutamine metabolism, and metabolic zonation. This emerging framework links impaired nitrogen handling to potential hepatic stress amplification and systemic crosstalk, while highlighting the need for direct validation in physiological
Heng Zhang, Guangyu Liang, Anding Liu
wiley +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
, 2006 BACKGROUND & AIMS: Donor cell engraftment with expression of enzyme activity is the goal of liver cell transplantation for inborn errors of liver metabolism with a view to achieving sustained metabolic control.
Stéphenne, Xavier +5 more
core +1 more source
Molecular Genetics and Metabolism ReportsBranched-chain amino acids (BCAAs) are important for normal growth, development, and function. In urea cycle disorders (UCDs), plasma BCAA levels can be relatively low; this has been attributed variously to low protein intake, hyperammonaemia, and ...
Mildrid Yeo +4 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Svenja Scharre +19 more
wiley +1 more source
, 2021 Phenotypic Heterogeneity and Fertility Potential of Patients with 17-Hydroxylase/17,20-lyase Deficiency - Supplemental ...
Xuemeng Liu (11885125) +11 more
core +1 more source
, 2021 Supplemental Data: 17α-hydroxylase/17,20-lyase deficiency in 46, XY: our experience and review of ...
Rohit Barnabas (11871674) +1 more
core +1 more source
Ammonia Detoxification Inhibits Liver Metastasis by Reshaping Hepatic Microenvironment
Advanced Science, Volume 13, Issue 33, 15 June 2026.Liver metastasis diverts aspartate into hyperactive pyrimidine synthesis, disrupting urea cycling and causing pathogenic ammonia accumulation. Ammonia dually reprograms the microenvironment by: (1) activating hepatic stellate cells (HSCs) into pro‐fibrotic metastasis‐associated fibroblasts (MAFs), and (2) suppressing anti‐tumor monocytes/macrophages ...
Sumin Sun +5 more
wiley +1 more source