Results 91 to 100 of about 2,442 (194)

Effects of patent foramen ovale in migraine: a metabolomics‐based study

The Journal of Physiology, Volume 603, Issue 4, Page 809-835, 15 February 2025.
Abstract figure legend Aura, cystatin‐C and calcium are biomarkers of PFO in migraine. PFO closure relieves migraine by regulating 5‐HT metabolism and redox reactions, especially in the posterior head. cTTE, contrast‐transthoracic echocardiography; DESI‐MSI, desorption electrospray ionization mass imaging; H&E, haematoxylin and eosin; PFO, patent ...
Bosi Dong, Xin Li, Lu Zhang, Ge Liang, Wen Zheng, Luolan Gui, Shuming Ji, Yusha Tang, Hua Li, Wanling Li, Ruiqi Yang, Yajiao Li, Anjiao Peng, Yucheng Chen, Meng Gong, Lei Chen   +15 more
wiley   +1 more source

Creatine deficiency syndromes and the importance of creatine synthesis in the brain [PDF]

, 2018
Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Braissant, Olivier, Béard, Elidie, Henry, Hugues, Uldry, Joséphine   +3 more
core  

Does Dietary Provision of Guanidinoacetic Acid Induce Global DNA Hypomethylation in Healthy Men and Women? [PDF]

, 2018
Background/Aims: Guanidinoacetic acid (GAA) is an experimental dietary additive and has been reported to induce methyl depletion when provided by the diet.
Drid, Patrik, Mojsin, Marija, Ostojić, Sergej M., Vranes, Milan   +3 more
core   +1 more source

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
ABSTRACT Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness.
Berith M. Balfoort, Filip Van den Broeck, Camiel J. F. Boon, Martijn C. G. J. Brouwers, Roselie M. H. Diederen, Preet Dhillon, GACR “Bird's Eye View” Consortium, Anneloor L.M.A. Ten Asbroek, Berith M. Balfoort, Arthur A. Bergen, Camiel J.F. Boon, Marion M. Brands, Mark J.N. Buijs, Roselie M.H. Diederen, Sacha Ferdinandusse, Riekelt H. Houtkooper, Clara D. M. Van Karnebeek, Patrick Schultink, Corrie Timmer, Frédéric M. Vaz, Margreet A.E.M. Wagenmakers, Ronald J.A. Wanders, Hans R. Waterham, Frits Wijburg, Peter M. van Hasselt, Bregje Jaeger, Jessica S. Karuntu, Alexander J. M. Rennings, Francjan J. van Spronsen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Julie De Zaeytijd, Bart P. Leroy, Andreas Schulze, Clara D. van Karnebeek, Marion M. Brands   +35 more
wiley   +1 more source

Cerebral creatine deficiency syndromes: 13 years experience in Portugal [PDF]

, 2017
Os síndromes da deficiência em creatina cerebral são um grupo de erros inatos do metabolismo da creatina que incluem as deficiências de síntese da creatina: arginina:glicina amidinotransferase (AGAT) e S-adenosil- L-metionina:guanidinoacetato ...
Lopes, Altina, Valongo, Carla, Vilarinho, Laura   +2 more
core  

Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
ABSTRACT Liver transplantation (LTx) is increasingly used in Urea Cycle Defects (UCDs) to prevent recurrent hyperammonemia and related neurological irreversible injury. Among UCDs, argininosuccinate lyase deficiency (ASLD) has a more complex phenotype than other UCDs, with long‐term neurocognitive deficits.
Barbara Siri, Benedetta Greco, Diego Martinelli, Sara Cairoli, Alessia Guarnera, Daniela Longo, Antonio Napolitano, Chiara Parrillo, Lucilla Ravà, Raffaele Simeoli, Gionata Spagnoletti, Roberta Taurisano, Silvio Veraldi, Andrea Pietrobattista, Marco Spada, Carlo Dionisi‐Vici   +15 more
wiley   +1 more source

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review [PDF]

, 2018
Summary: Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core  

Proton Magnetic Resonance Spectroscopy of the Developing Human Brain

Clinical Neuroimaging, Volume 2, Issue 1, 2025.
ABSTRACT Neurodevelopmental disorders are pervasive and pose a significant public health problem. Many of these disorders can have a lifelong impact on the quality of life and may affect an individual's ability to function independently. In numerous pediatric and fetal neurological disorders, biochemical alterations precede or mediate structural and ...
Firoozeh Shomal Zadeh, Qinqin Yang, Ali Gholipour, Camilo Jaimes   +3 more
wiley   +1 more source

Multiplatform serum metabolic phenotyping combined with pathway mapping to identify biochemical differences in smokers

, 2016
Aim: Determining perturbed biochemical functions associated with tobacco smoking should be helpful for establishing causal relationships between exposure and adverse events.
Boulangé, CL, Garcia-Perez, I, Kaluarachchi, MR, Lindon, JC, Minet, EF   +4 more
core   +1 more source

Creatine Ameliorates the Adverse Effects of High‐Fat Diet on Hepatic Lipid Metabolism via Activating Mfn2‐Mediated Mitochondrial Fusion in Juvenile Grass Carp

Aquaculture Nutrition, Volume 2025, Issue 1, 2025.
With the increasing prevalence of high‐fat diets (HFD) in aquaculture practices, the detrimental effects of HFD on farmed fish have garnered significant attention. Creatine has emerged as a promising green feed additive for aquaculture species; however, its potential role in mitigating the negative impacts of HFD remains poorly understood.
Nan-Jun Hu, Guang-Li Feng, Xiao-Hong Lai, Mo Peng, Yu-Feng Song, Shouqi Xie   +5 more
wiley   +1 more source