Results 51 to 60 of about 585 (187)

Carnitine : analytical and physiological aspects [PDF]

open access: yes, 2012
Carnitine is an endogenous amino acid derivative which plays a key role in energy metabolism. Through acylation of its ß-hydroxy group, carnitine is involved in the interorganellar transport of long-chain fatty acids and in the regulation of the coenzyme
Bourqui, Réjane Morand
core   +1 more source

Controversies in Parenteral Protein Intake in Preterm Infants

open access: yesChildren
As the limit of viability is extended to lower gestational ages, neonatologists caring for preterm infants must discover the optimal nutritional combination to support postnatal growth.
Ira Holla, Pradeep Alur
doaj   +1 more source

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

open access: yesBMC Pediatrics, 2018
Background Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM).
Chi-Ju Yang   +8 more
doaj   +1 more source

Therapeutic drug monitoring of antimicrobials in a paediatric setting: A retrospective single‐centre study

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims Paediatric pharmacokinetics differ significantly from adults due to age‐related physiological changes, necessitating precise dose adjustments. However, data on therapeutic drug monitoring (TDM) implementation in paediatric setting remain limited.
Gianluca Gazzaniga   +20 more
wiley   +1 more source

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

open access: yesESC 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

Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism

open access: yes, 1999
Development of acylcarnitine and amino acid profiling using tandem mass spectrometry, and its application for use with dried blood specimens collected on filter-paper cards, has introduced an innovative new technology for detecting inborn errors of fatty
Edwin W. Naylor, Donald H. Chace
core   +1 more source

The importance of plasma amino acid profiling in the diagnosis of inborn errors of metabolism: analytical – prospective study [PDF]

open access: yes, 2022
Introducere. Erorile înnăscute de metabolism (EIM) alcătuiesc un grup larg de tulburări cauzate de un defect genetic al proteinelor care au rol enzimatic, de transport, receptor sau structural.
Efremov, Egor   +6 more
core  

Maternal and umbilical cord plasma concentrations of antiseizure medications: Results from the observational MONEAD study

open access: yesEpilepsia, EarlyView.
Abstract Objective Unanticipated changes in antiseizure medication (ASM) exposure can lead to subtherapeutic or toxic medication concentrations in the mother and unnecessary drug exposure for the fetus. The objectives of this study were to characterize ASM concentrations in mother's and cord blood at delivery in women with epilepsy (PWWE).
Charul Avachat   +138 more
wiley   +1 more source

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

open access: yesJournal of Lipid Research, 1999
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL, E.C. 4.1.3.4) has a unique dual localization in both mitochondria and peroxisomes. Mitochondrial HL (~31.0 kDa) catalyzes the last step of ketogenesis; the function of peroxisomal HL (~33.5 kDa) is unknown.
Lyudmila I. Ashmarina   +4 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

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