Results 81 to 90 of about 51,297 (232)
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
Human Genome Variation, 2018 An 18-month-old boy was diagnosed with late-onset ornithine transcarbamylase deficiency. Genetic analysis revealed a mosaic frameshift mutation (p.Q279fs) in the OTC gene.
Tomoko Lee +11 more
semanticscholar +1 more source
Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award
Annals of the Child Neurology Society, EarlyView.
Andrea Gropman
wiley +1 more source
Journal of the Science of Food and Agriculture, Volume 106, Issue 12, Page 7380-7396, September 2026.Abstract BACKGROUND Climate change is currently affecting chemical grape composition and, consequently, grape quality. The foliar application of biostimulants has emerged as a promising approach to mitigate these effects. This study investigated the effects of foliar applications of calcium (Ca), methyl jasmonate (MeJ), and their combination (Ca + MeJ)
Teresa Garde‐Cerdán +5 more
wiley +1 more source
Ornithine transcarbamylase deficiency: neonatal diagnostic
Jornal de Pediatria, 1999 OBJECTIVE: To drive pediatrician's attention to a urea cycle enzyme deficiency. The prognosis is directly related to the early diagnosis and treatment. METHODS: We describe a newborn patient who present lethargy, vomitus and seizures 48 hours afther birth. We investigated this patient and the diagnosis of ornithine transcarbamylase deficiency was made.
C A, Ulhôa, C T, Barrett
openaire +2 more sources
Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency
Internal medicine, 2018 A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function.
Y. Koya +7 more
semanticscholar +1 more source
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
Aging Cell, Volume 25, Issue 8, August 2026.Aging induces sex‐differential glucose intolerance, with male‐specific citrulline depletion. Lactiplantibacillus plantarum AS21 elevates microbiota‐derived citrulline metabolism and enhances GLP‐1 secretion, improving glucose homeostasis. ABSTRACT Aging‐related metabolic decline, particularly impaired glucose tolerance, represents a growing challenge ...
Mengya Jia +9 more
wiley +1 more source
Overview on ornithine synthesis and degradation.
, 2019 ADC1/2, arginine decarboxylase 1 and 2; ArgAH, arginine amidohydrolase; ASL, argininosuccinate lyase; ASSY, argininosuccinate synthetase; CARA, carbamoyl phosphate synthetase A; CARB, carbamoyl phosphate synthetase B; NAGS, N-acetyl-L-glutamate synthase;
Miriam Laxa (6236678) +4 more
core +1 more source
Hepatology Research, Volume 56, Issue 8, Page 1286-1291, August 2026.Zinc deficiency is frequently seen in patients with chronic liver disease and is linked to poor appetite and nutritional status. We found that switching to zinc histidine hydrate increased zinc levels within a short period and was associated with improved appetite.
Yoshihito Uchida +9 more
wiley +1 more source