Results 121 to 130 of about 58,838 (349)
Chemistry &Biodiversity, EarlyView.ABSTRACT Biodiversity offers a rich source of bioactive compounds for drug discovery. We isolated Aspergillus fumigatus from compost in the Atlantic Forest and found its extract active against Leishmania (Leishmania) amazonensis. Two crude extracts, I06 and I75, were selected for further study.
Juliana Cristina Pereira Calado +11 more
wiley +1 more source
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Journal of Inborn Errors of Metabolism and Screening, 2017 Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD +7 more
doaj +1 more source
The landscape of CRISPR/Cas9 for inborn errors of metabolism.
Molecular Genetics and Metabolism, 2022 A. Leal +6 more
semanticscholar +1 more source
Exploiting epigenetics for the treatment of inborn errors of metabolism
Journal of Inherited Metabolic Disease, 2019 Gene therapy is currently considered as the optimal treatment for inborn errors of metabolism (IEMs), as it aims to permanently compensate for the primary genetic defect.
M. Rutten, M. Rots, M. Oosterveer
semanticscholar +1 more source
Hepatocytes in the development of liver support systems [PDF]
, 1993 This thesis focuses on the development of alternative strategies in the treatment of patients with acute fulminant hepatic failure and inborn errors of metabolism, using hepatocytes as the basis of liver support.
Borel Rinkes, I.H.M. (Inne)
core +1 more source
Chemistry–Methods, EarlyView.Cerebrospinal fluid (CSF) is an important diagnostic matrix in neurology. This review illustrates the potentials and pitfalls of current CSF analysis by nuclear magnetic resonance. Created with BioRender.com in BioRender. Berezhnoy, G. (2025) https://BioRender.com/x80l903. Web of Science is owned by Clarivate.
Georgy Berezhnoy +4 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
Challenges in experimental data integration within genome-scale metabolic models [PDF]
, 2010 A report of the meeting "Challenges in experimental data integration within genome-scale metabolic models", Institut Henri Poincar\'e, Paris, October 10-11 2009, organized by the CNRS-MPG joint program in Systems Biology.Comment: 5 ...
Bourguignon, Pierre-Yves +4 more
core +6 more sources
Clinical Pharmacology &Therapeutics, EarlyView.CYP2D6 alleles with low frequency in Eurocentrically biased study populations are often excluded from pharmacogenetic investigation and consequently may have misassigned activity values. This health inequity may be contributing to imprecise dose predictions for CYP2D6‐metabolizing drugs.
Oyinlade Kehinde +6 more
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