Results 51 to 60 of about 3,709 (187)

Success of transition to adult care in patients with pediatric‐onset chronic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Previous studies on chronic pediatric‐onset conditions have highlighted the risks of loss to follow‐up, disease progression, or therapeutic nonadherence during transition. However, very few studies have focused on liver diseases.
Sarah Mongbo, Valérie Canva, Sébastien Dharancy, Guillaume Lassailly, Alexandre Louvet, Philippe Mathurin, Nassima Ramdane, Frédéric Gottrand, Madeleine Aumar   +8 more
wiley   +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, EarlyView.
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

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

Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency [PDF]

Korean Journal of Pediatrics, 2011
Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns.
Hyo Jeong Kim, Se Jin Park, Kook In Park, Jin Sung Lee, Ho Sun Eun, Ji Hong Kim, Jae Il Shin   +6 more
doaj   +1 more source

Short‐Term Clinical Effects After Switching From Zinc Acetate Hydrate to Zinc Histidine Hydrate in Patients With Chronic Liver Disease

Hepatology Research, EarlyView.
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, Naoto Soma, Shohei Tsuji, Satsuki Ando, Kayoko Sugawara, Masamitsu Nakao, Nobuaki Nakayama, Yukinori Imai, Suguru Mizuno, Satoshi Mochida   +9 more
wiley   +1 more source

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross‐Border Surveillance in Germany, Austria, and Switzerland

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, Annette L. Hess, Florian Gleich, Sven F. Garbade, Patrik Feyh, Daniela Karall, Anna Baghdasaryan, Martina Huemer, Julia B. Hennermann, Andreas Hahn, Martin Lindner, Gwendolyn Gramer, Thomas Luecke, Nils Kleinelanghorst, Johannes Haeberle, Amelie S. Lotz‐Havla, Georg F. Hoffmann, Juergen G. Okun, Ulrike Muetze, Stefan Kölker   +19 more
wiley   +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., Nedermeijer, Samantha, Geleijns, CPW, Van Den Hout, J., de Klerk, H, Catsman - Berrevoets, Coriene, Nedermeijer, S. C M, Geleijns, C., van den Hout, J, Geleijns, C, Catsman-Berrevoets, C E, Nedermeijer, S C M   +12 more
core   +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

Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.

, 2021
Background: Orotic acid (OA) is the key parameter in the detection of ornithine transcarbamylase deficiency (OTC-D).
Sander, Johannes, Peter, Michael, Terhardt, Michael, Gokcay, Gülden Fatma, Demirkol, Mubeccel, Luecke, Thomas, Das, Anibh M., Janzen, Nils, Sander, Stefanie   +8 more
core   +1 more source

Long‐Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch‐Over and 12‐Month Extension Study

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Sodium phenylbutyrate (NaPBA) is used for nitrogen scavenging in urea cycle disorders (UCDs), but its volume, palatability, and sodium load affect adherence and ammonia control. Glycerol phenylbutyrate (GPB) offers an alternative option with demonstrated improvements in metabolic control and palatability.
Yoichi Wada, Mahoko Furujo, Kenichi Kashimada, Takashi Hamazaki, Hiromi Nyuzuki, Keiko Ichimoto, Toshihiko Kakiuchi, Shirou Matsumoto, Yoriko Watanabe, Chiho Ono, Takako Shimizu, Hiroiku Furukawa, Kimitoshi Nakamura   +12 more
wiley   +1 more source