Results 101 to 110 of about 24,798 (312)
Carnitine Inborn Errors of Metabolism
, 2019 Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%.
Majid Alfadhel +2 more
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Clinical Pharmacology &Therapeutics, EarlyView.5‐hydroxytryptamine type 3 (5‐HT3) receptor antagonists are used to treat nausea and vomiting and in the prevention of chemotherapy‐induced, radiation‐induced, and postoperative nausea and vomiting. Most of the 5‐HT3 receptor antagonists (i.e., ondansetron, tropisetron, dolasetron, palonosetron, and ramosetron) are metabolized by CYP2D6, but the extent
Claire Moore +16 more
wiley +1 more source
CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved
Neurobiology of Disease, 2009 In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
doaj +1 more source
Cardiac manifestations of inborn errors of metabolism.
, 2007 Item does not contain fulltextAIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism.
Daphnis, E. +9 more
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Clinical Pharmacology &Therapeutics, EarlyView.Busulfan's narrow therapeutic index and high pharmacokinetic (PK) variability warrant investigation of its exposure–toxicity relationship. We retrospectively analyzed 334 pediatric and young adult patients who underwent allogeneic hematopoietic stem cell transplantation at Seoul National University Children's Hospital between 2009 and 2020 and received
Sungyeun Bae +7 more
wiley +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li +12 more
wiley +1 more source
Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells
Neurobiology of Disease, 2008 Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Laurène Cagnon, Olivier Braissant
doaj +1 more source
Progress toward improved therapies for inborn errors of metabolism
, 2015 Because of their prevalence, severity and lack of effective treatments, inborn errors of metabolism need novel and more effective therapeutic approaches.
GINOCCHIO, virginia maria +1 more
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ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
wiley +1 more source
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 +15 more
doaj +1 more source