Results 51 to 60 of about 174,613,300 (296)
Flux analysis of inborn errors of metabolism [PDF]
, 2018 Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the
Reijngoud, D-J +2 more
core +1 more source
Animal Models and Experimental Medicine, EarlyView.Using F1 (C57BL/6J/Smad4+/− X CC) mice, we found that partial loss of Smad4 promotes liver carcinogenesis in a strain‐dependent manner, highlighting the importance of genetic modifiers in tumor susceptibility. The use of Collaborative Cross mice provides a valuable platform for uncovering genotype‐specific cancer susceptibilities in preclinical ...
Osayd Zohud +3 more
wiley +1 more source
Hepatic-Based Inborn Errors of Metabolism [PDF]
, 2015 Inborn errors of metabolism (IEMs) are a vast, diverse, and heterogeneous set of genetic disorders. Hepatic-based IEMs are a significant cause of morbidity and mortality, and represent a common indication for liver transplantation (LTx) in the ...
Tormod Lund
core
Angewandte Chemie International Edition, EarlyView.Organic solvent‐free lipid nanoparticles featuring PEtOx‐based stealth lipids enable efficient mRNA and CRISPR‐Cas9 delivery while exhibiting markedly improved biocompatibility compared with PEG‐based analogues. Their successful ex vivo and in vivo performance, combined with data‐driven formulation optimization, establishes a versatile platform that ...
Michael Streiber +21 more
wiley +1 more source
Liver Transplantation, EarlyView., 2022 Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala +6 more
wiley +1 more source
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 +7 more
core +1 more source
Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection
The Anatomical Record, EarlyView.Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson +6 more
wiley +1 more source
When meta‐analyses mislead: Promises and pitfalls in teratology counselling
British Journal of Clinical Pharmacology, EarlyView.Meta‐analysis has become a central tool for evidence synthesis in clinical teratology, offering the promise of increased statistical power, earlier signal detection and consolidated guidance for teratology counselling. When conducted rigorously and interpreted carefully, pooled analyses can provide clinicians with a structured basis for risk ...
Yusuf Cem Kaplan, Nusret Uysal
wiley +1 more source
CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
doaj
INBORN ERRORS OF METABOLISM AND METABOLIC WORK-UP IN AUTISM SPECTRUM DISORDERS
Slovenska pediatrija, 2021 Autism spectrum disorders are complex developmental dis-orders characterised by disturbances in social interactions, verbal and non-verbal communication and imagination.
Anja Krivec Penič +3 more
doaj +1 more source