Results 51 to 60 of about 467,750 (151)

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Molecular Genetics & Genomic Medicine, 2020
Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu   +6 more
doaj   +1 more source

Gastric Cancer: Epidemiology, Risk Factors, Pathogenesis, Clinical Features, Diagnosis, and Management

MedComm, Volume 7, Issue 11, November 2026.
This comprehensive review summarizes gastric cancer epidemiology, multifactorial risk factors (like infectious, dietary, genetic), pathogenesis such as precancerous evolution, molecular alterations, and a focus on the bidirectional interactions between gastric cancer cells and macrophages in the tumor microenvironment.
Yixuan Xin, Xingya Wang, Yangtao Wu, Qian Liu, Qian Ren, Hui Wang, Jingbo Zhai   +6 more
wiley   +1 more source

Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report

Journal of Medical Case Reports, 2018
Background Sodium valproate is a commonly used anticonvulsant. It is widely recognized that valproate can cause hyperammonemia, particularly in people with underlying liver disease.
Shaine Mehta, Sarrah Tayabali, Robin Lachmann   +2 more
doaj   +1 more source

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). [PDF]

PLoS ONE, 2016
BACKGROUND:Acute liver failure (ALF) has been reported in ornithine transcarbamylase deficiency (OTCD) and other urea cycle disorders (UCD). The frequency of ALF in OTCD is not well-defined and the pathogenesis is not known.
Alexander Laemmle, Renata C Gallagher, Adrian Keogh, Tamar Stricker, Matthias Gautschi, Jean-Marc Nuoffer, Matthias R Baumgartner, Johannes Häberle   +7 more
doaj   +1 more source

Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background and Aim Maple Syrup Urine Disease (MSUD) is a metabolic disorder affecting branched‐chain amino acid metabolism. While neurological symptoms are well‐characterized, cutaneous manifestations such as acrodermatitis dysmetabolica (AD) caused by isoleucine deficiency remain underrecognized.
Bahareh Abtahi‐naeini, Motahar Heidari‐Beni, Noushin Rostampour, Naeimeh Davoudi, Sarah Seyedyousefi   +4 more
wiley   +1 more source

Adeno-associated virus vector-based gene therapies for pediatric diseases

Pediatrics and Neonatology, 2023
Gene therapy using adeno-associated virus (AAV) is a rapidly developing technology with widespread treatment potential. AAV2 vectors injected directly into the brain by stereotaxic brain surgery have shown good results in treating aromatic l-amino acid ...
Kazuhiro Muramatsu, Shin-ichi Muramatsu
doaj   +1 more source

Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency

, 2015
The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births in Japan. Symptoms
De Klerk, H., Catsman-Berrevoets, C. E., Van Den Hout, J., de Klerk, H, Nedermeijer, S. C M, Geleijns, C., van den Hout, J, Geleijns, C, Catsman-Berrevoets, C E, Nedermeijer, S C M   +9 more
core   +1 more source

Calcium, methyl jasmonate and their combined foliar applications: Influence on Tempranillo grape amino acids composition over two seasons

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, Eva P Pérez‐Álvarez, Itziar Sáenz de Urturi, Rebeca Murillo‐Peña, Lesly L Torres‐Díaz, Miriam González‐Lázaro   +5 more
wiley   +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, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +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