Results 71 to 80 of about 1,718,768 (214)

Inborn Errors of Metabolism

, 2017
Until now, most studies on the pathophysiological mechanisms of inborn errors of metabolism have almost exclusively focused on the measurement of concentrations of different metabolites in plasma, urine, or cerebrospinal fluid.
Frits A. Wijburg, Ronald J.A. Wanders, Wanders, Ronald J.A., Hidde H. Huidekoper, Huidekoper, Hidde; id_orcid, Wijburg, Frits A.   +5 more
core   +1 more source

Long‐Acting Therapeutics in Pediatric Health: Bridging Innovation and Access

Clinical Pharmacology &Therapeutics, EarlyView.
Children have distinct therapeutic needs arising from age‐dependent physiology, disease epidemiology, formulation requirements, dosing considerations, and safety vulnerabilities. Despite substantial reductions in childhood mortality over the past three decades, nearly 5 million children under five died in 2023, with infectious diseases continuing to ...
Prajith Venkatasubramanian, Moherndran Archary, Daniel B. Hawcutt, Rachel Daley, Edmund Capparelli, Adeniyi Olagunju   +5 more
wiley   +1 more source

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

, 2019
Pyrimidine nucleotides are essential for a vast number of cellular processes and dysregulation of pyrimidine metabolism has been associated with a variety of clinical abnormalities.
Wassermann, Wyeth W, Bidon-Chanal, Axel, Kulik, Wim, Pérez-Torras, Sandra, Viel-Oliva, Albert, Pastor-Anglada, Marçal, Ross, Colin J, Meinsma, Rutger, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Mata-Ventosa, Aida, van Cruchten, Arno G, van Karnebeek, Clara D M, van Kuilenburg, André B P   +14 more
core   +1 more source

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Inborn Errors of Metabolism

, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and ...
Ezgu, FATİH SÜHEYL, Fatih Ezgu
core   +1 more source

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

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, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, Sarbadhikari SN, S N, Sarbadhikari, Kavitha S, Ananth N Rao, S, Kavitha   +5 more
core  

Occasional seizures, epilepsy, and inborn errors of metabolism

, 2014
Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement ...
Dulac, Olivier, Gataullina, Svetlana, Gataullina, S., Wolf, N.I., Dulac, O., Plecko, B., Wolf, Nicole I, Plecko, Barbara   +7 more
core   +1 more source

EPILEPSY IN INBORN ERRORS OF METABOLISM [PDF]

, 2016
Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases ...
E. D. Belousova
core   +1 more source