Results 211 to 220 of about 2,729,552 (357)

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans [PDF]

, 2001
Chike Bellarmine Item, Sylvia Stöckler‐Ipsiroglu, Carmen Stromberger, Adolf Mühl, M. Alessandri, Maria Cristina Bianchi, Michela Tosetti, Francesco Fornai, Giovanni Cioni   +8 more
openalex   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

Multi‐Omics Reveal the Metabolic Changes in Cumulus Cells During Aging

Cell Proliferation, EarlyView.
Fatty acid β‐oxidation was elevated in cumulus cells from older mice. Tryptophan metabolism in aged cumulus cells was active. Supplementing with 5‐HT could mitigate aging damage in oocytes. ABSTRACT Maternal age has been reported to impair oocyte quality.
Liangyue Shi, Hengjie Wang, Shuai Zhu, Minjian Chen, Xuejiang Guo, Qiang Wang, Ling Gu   +6 more
wiley   +1 more source

The heart, a secondary organ in the control of blood circulation

Experimental Physiology, EarlyView., 2023
Abstract Circulation of the blood is a fundamental physiological function traditionally ascribed to the pressure‐generating function of the heart. However, over the past century the ‘cardiocentric’ view has been challenged by August Krogh, Ernst Starling, Arthur Guyton and others, based on haemodynamic data obtained from isolated heart preparations and
Branko Furst, José González‐Alonso
wiley   +1 more source

β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine [PDF]

, 2001
Sytske H. Moolenaar, Gudrun Göhlich‐Ratmann, Udo F. H. Engelke, Manfred Spraul, Eberhard Humpfer, Péter Dvortsák, Thomas Voït, Georg F. Hoffmann, Christa Bräutigam, André B. P. Kuilenburg, Albert van Gennip, P. Vreken, Ron A. Wevers   +12 more
openalex   +1 more source

Vaccination strategies for people living with inborn errors of metabolism in Brazil. [PDF]

J Pediatr (Rio J), 2023
Ramos BCF, Aranda CS, Cardona RSB, Martins AM, Solé D, Clemens SAC, Clemens R.   +6 more
europepmc   +1 more source

Natural history of SGCE‐associated myoclonus dystonia in children and adolescents

Developmental Medicine &Child Neurology, EarlyView.
Children and adolescents with SGCE‐associated myoclonus dystonia showed a progression of motor symptoms during a mean follow‐up of 4 years. Patients developed a significant increase in the severity of axial and limb myoclonus, as well as dystonia during writing.
Valeria De Francesch, Ana Cazurro‐Gutiérrez, Elze R. Timmers, Gemma Español‐Martín, Julia Ferrero‐Turrión, David Gómez‐Andrés, Anna Marcé‐Grau, Lucía Dougherty‐de Miguel, Victoria González, Antonio Moreno‐Galdó, Marina A. J. Tijssen, Belén Pérez‐Dueñas   +11 more
wiley   +1 more source

Myonuclear alterations associated with exercise are independent of age in humans

The Journal of Physiology, EarlyView., 2023
Abstract figure legend Structural and mechanical properties of myonuclei in trained young and aged individuals. In skeletal muscle fibres from trained individuals, myonuclei are more spherical, have greater lamin A and are stiffer compared to untrained counterparts.
E. Battey, J. A. Ross, A. Hoang, D. G. S. Wilson, Y. Han, Y. Levy, R. D. Pollock, M. Kalakoutis, J. N. Pugh, G. L. Close, G. M. Ellison‐Hughes, N. R. Lazarus, T. Iskratsch, S. D. R. Harridge, J. Ochala, M. J. Stroud   +15 more
wiley   +1 more source

Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.

Molecular Genetics and Metabolism Reports, 2021
Johannes Krämer
doaj  

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause [PDF]

, 2001
Allan Chiaratti de Oliveira, Amélia Miyashiro Nunes dos Santos, Ana María Martins, Vânia D’Almeida   +3 more
openalex   +1 more source