Results 71 to 80 of about 9,482 (191)

FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia

Molecular Genetics and Metabolism Reports
Introduction: FBXL4- related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is caused by pathogenic variants in the FBXL4 gene, resulting in mitochondrial dysfunction and multisystem involvement.
Ayça Burcu Kahraman, Halil Çelik, Zafer Bagci, Abdullah Sezer, Mustafa Kılıç   +4 more
doaj   +1 more source

Epilepsy‐Related Psychosis in Drug‐Resistant Epilepsy With Nonconvulsive Status Epilepticus and Difficult Antipsychotic Titration: A Case Report

Neuropsychopharmacology Reports, Volume 46, Issue 3, September 2026.
Electroclinical findings supported diazepam‐responsive nonconvulsive status epilepticus (NCSE) in an older patient with drug‐resistant epilepsy and psychosis. After phenytoin treatment, continuous EEG helped monitor recurrence. Later symptoms were most consistent with interictal psychosis with a possible alternative psychosis component, emphasizing ...
Wataru Omori, Ryo Hirabayashi, Kenichi Oga, Yoshikazu Masuda, Go Okada   +4 more
wiley   +1 more source

Idiopathic hyperammonemia after chemotherapy with vinorelbine, topotecan, and cisplatin in a patient with acute lymphocytic leukemia

Hematology/Oncology and Stem Cell Therapy, 2010
Idiopathic hyperammonemia (IHA) had been reported in some patients with hematological malignancy after receiving intensive chemotherapy, following bone marrow transplantation, or after using 5-fluorouuracil for some solid tumors.
Yu-Hsien Chen, Tzeon-Jye Chiou, Yen-Ning Hsu, Chun-Yu Liu   +3 more
doaj   +1 more source

Salt Treatment Confers Protection Against Acute Carp Edema Virus Reinfection While Promoting Viral Persistence

Journal of Fish Diseases, Volume 49, Issue 9, September 2026.
ABSTRACT Carp edema virus (CEV) infects the common carp (Cyprinus carpio) and causes the lethal koi sleepy disease (KSD). Signs of KSD include respiratory, detoxification, and osmoregulatory difficulties. Salt treatment re‐equilibrates blood sodium levels and can save the fish. However, it is unclear whether these fish are immunized, remain chronically
Mikolaj Adamek, Maria Zawisza, Justin Tze Ho Chan, Alexander Rebl, Felix Teitge, Alberto Falco, Anne‐Carina Miebach, Verena Jung‐Schroers, Esteban Soto, Jiří Kyslík, Dieter Steinhagen, Krzysztof Rakus, Tomas Korytar   +12 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Continuous renal replacement therapy for severe transient hyperammonemia in a preterm infant weighing 1120 g: A case report

Journal of International Medical Research
Transient hyperammonemia of the newborn is a rare form of hyperammonemia with an unclear, likely nongenetic etiology, primarily affecting larger preterm infants.
Jinglin Xu, Jiahuai Liu, Hongyuan Yang, Weifeng Zhang, Dongmei Chen, Zhiyong Liu   +5 more
doaj   +1 more source

SIRT Family: Biological Functions and Therapeutic Targets

MedComm, Volume 7, Issue 8, August 2026.
SIRT1–SIRT7 networks from transgenic mice to human‑relevant therapeutic targets. SIRT1–SIRT7 form an isoform‑, organ‑, and disease‑specific regulatory network. Transgenic Sirt1–7 mouse models define central regulatory SIRTs (SIRT1, SIRT3, SIRT6), context‑dependent modifiers (SIRT2, SIRT4, SIRT5, SIRT7), and their key mechanisms and target organs. These
Jia‐Yi Wang, Feng‐Li Jiang, Fang‐Yuan Zhang, Dong‐Hui Huang, Xiao‐Ying Li, Song Gao, Hua You, Qi‐Jun Wu, Huan‐Huan Chen, Ting‐Ting Gong   +9 more
wiley   +1 more source

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia [PDF]

, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is an autosomal recessive disorder that is caused by a deficiency of mitochondrial ornithine transporter 1, resulting in dysfunction of the urea cycle. HHH is the rarest of the urea cycle disorders, reported in fewer than 100 patients.
Katherine Taylor, Wild, Rebecca D, Ganetzky, Marc, Yudkoff, Lynne, Ierardi-Curto   +3 more
openaire   +2 more sources

Current Insight into Human Ornithine Aminotransferase: A Review

Proteins: Structure, Function, and Bioinformatics, Volume 94, Issue 8, Page 1431-1441, August 2026.
ABSTRACT Human ornithine aminotransferase (hOAT) is a mitochondrial matrix pyridoxal‐5′‐phosphate enzyme (PLP) that catalyzes the reversible transfer of the δ‐amino group of L‐ornithine (L‐Orn) to α‐ketoglutarate (α‐KG) yielding glutamate‐5‐semialdehyde (GSA) and glutamate. GSA is prone to cyclize to Δ1‐pyrroline‐5‐carboxylate.
Fulvio Floriani, Carla Borri Voltattorni, Riccardo Montioli   +2 more
wiley   +1 more source

Hyperammonemia impairs long-term potentiation in hippocampus by altering the modulation of cGMP-degrading phosphodiesterase by protein kinase G

Neurobiology of Disease, 2004
Hyperammonemia impairs long-term potentiation (LTP) in hippocampus, by an unknown mechanism. LTP in hippocampal slices requires activation of the soluble guanylate cyclase (sGC)-protein kinase G (PKG)-cGMP-degrading phosphodiesterase pathway.
Pilar Monfort, Marı́a-Dolores Muñoz, Vicente Felipo   +2 more
doaj   +1 more source