Results 121 to 130 of about 2,729,552 (357)

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

International Journal of Molecular Sciences, 2017
Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical ...
Suvasini Sharma, A. Prasad
semanticscholar   +1 more source

Astroglial CB1 Reveal Sex‐Specific Synaptic Effects of Amphetamine

Glia, EarlyView.
Astroglial CB1R mediates long‐term synaptic plasticity (LTD) in the Nucleus accumbens. Amphetamine saturates adenosine receptors and blocks LTD in males, but not females. Locomotor effects of amphetamine require astroglial CB1R in males, but not in females.
Yamuna Mariani, Tommaso Dalla‐Tor, Tommaso Garavaldi, Francisca Julio‐Kalajzić, Doriane Gisquet, Paula Gomez‐Sotres, Astrid Cannich, Giuditta Gambino, Filippo Drago, Roman Serrat, Imane Hurel, Francis Chaouloff, Sandrine Pouvreau, Luigi Bellocchio, Giovanni Marsicano, Ana Covelo   +15 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

Screening for inborn errors of metabolism. [PDF]

, 1969

openalex   +3 more sources

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Frontiers in Immunology, 2019
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L. Marín-Soria, Rosa M. López-Galera, Sonia Pajares-García, Jose M. González de Aledo-Castillo, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Judit García-Villoria, Antonia Ribes, Pere Soler-Palacín   +15 more
doaj   +1 more source

Impact of pregnancy on inborn errors of metabolism

Reviews in Endocrine & Metabolic Disorders, 2018
Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty.
G. Wilcox
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

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  

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2018
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong   +5 more
semanticscholar   +1 more source

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

International Journal of Neonatal Screening, 2015
With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently
Esther M. Maier
doaj   +1 more source