Results 51 to 60 of about 585 (187)
Carnitine : analytical and physiological aspects [PDF]
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
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
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
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
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
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]
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
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 (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
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

