Results 141 to 150 of about 198,582 (348)

Translating the future: Image-to-image translation for the prediction of future brain metabolism [PDF]

Medical Imaging 2024: Clinical and Biomedical Imaging
Alzheimer's disease (AD) is a progressive neurodegenerative disorder leading to cognitive decline. [$^{18}$F]-Fluorodeoxyglucose positron emission tomography ([$^{18}$F]-FDG PET) is used to monitor brain metabolism, aiding in the diagnosis and assessment of AD over time.
arxiv   +1 more source

Inborn errors of coenzyme A metabolism and neurodegeneration

Journal of Inherited Metabolic Disease, 2018
Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in ...
Ivano Di Meo, M. Carecchio, V. Tiranti
semanticscholar   +1 more source

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience

Molecular Genetics and Metabolism Reports, 2021
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs.
Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier   +9 more
doaj  

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Brain : a journal of neurology, 2016
Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain ...
D. Ebrahimi‐Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, S. Byrne, G. Hoffmann, H. Jungbluth, M. Sahin   +7 more
semanticscholar   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure, EarlyView.
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
wiley   +1 more source

Illuminating Immunity: A Systematic Review of Immune Cell Autofluorescence

Journal of Biophotonics, EarlyView.
ABSTRACT Immunophenotyping provides valuable prognostic and diagnostic information, but is technically complex and expensive. The assessment of autofluorescence is label‐free and provides complex information on cell identity. However, research on its application to immunophenotyping has been heterogenous.
Aline Knab, Caroline Giardina, Shane T. Grey, Ewa M. Goldys, Jared M. Campbell   +4 more
wiley   +1 more source

Alienation and action in the young Marx, Aristotle, and Arendt

, 2022
Constellations, Volume 29, Issue 4, Page 417-433, December 2022.
Michael Lazarus
wiley   +1 more source

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

Genetics in Medicine, 2017
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of highly ...
Jessica J. Y. Lee, W. Wasserman, G. Hoffmann, C. V. van Karnebeek, N. Blau   +4 more
semanticscholar   +1 more source

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj  

Robust generation of elementary flux modes [PDF]

arXiv, 2015
Elementary flux modes (EFMs) are vectors defined from a metabolic reaction network, giving the connections between substrates and products. EFMs-based metabolic flux analysis (MFA) estimates the flux over each EFM from external flux measurements through least-squares data fitting.
arxiv