Results 101 to 110 of about 57,504 (328)

A perilous path: the inborn errors of sphingolipid metabolism

Journal of Lipid Research, 2019
The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
T. Dunn, C. Tifft, R. Proia
semanticscholar   +1 more source

Left atrial function in uraemic patients: Four‐dimensional automatic left atrial quantitative technology study

ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.
Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
wiley   +1 more source

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease

Pharmaceutics
Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons.
Jacky M. Guerrero-Vargas, Diego A. Suarez-Garcia, Andrés F. Leal, Ivonne L. Diaz-Ariza, León D. Pérez-Pérez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz   +6 more
doaj   +1 more source

Impact of pregnancy on inborn errors of metabolism

Reviews in Endocrine & Metabolic Disorders, 2018
Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty.
G. Wilcox
semanticscholar   +1 more source

Parkinsonism and inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2014
AbstractParkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic‐rigid syndrome” (HRS) is more accurate in children.
S. T. Duarte, Angels García-Cazorla
openaire   +3 more sources

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

Identification, characterisation and outcomes of pre‐atrial fibrillation in heart failure with reduced ejection fraction

ESC Heart Failure, EarlyView.
Abstract Aims Atrial fibrillation (AF) in heart failure with reduced ejection fraction (HFrEF) has prognostic implications. Using a machine learning algorithm (FIND‐AF), we aimed to explore clinical events and the cardiac magnetic resonance (CMR) characteristics of the pre‐AF phenotype in HFrEF.
Anna Helbitz, Ramesh Nadarajah, Lan Mu, Harriet Larvin, Hesham Ismail, Ali Wahab, Patrick Thompson, Peter Harrison, Mohammad Harris, Tobin Joseph, Sven Plein, Mark Petrie, Marco Metra, Jianhua Wu, Peter Swoboda, Chris P. Gale   +15 more
wiley   +1 more source

Inborn errors of coenzyme A metabolism and neurodegeneration

Journal of Inherited Metabolic Disease, 2018
Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in ...
Ivano Di Meo, M. Carecchio, V. Tiranti
semanticscholar   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Substrate reduction therapy for inborn errors of metabolism

Emerging Topics in Life Sciences, 2019
Inborn errors of metabolism (IEM) represent a growing group of monogenic disorders each associated with inherited defects in a metabolic enzyme or regulatory protein, leading to biochemical abnormalities arising from a metabolic block.
W. Yue, S. Mackinnon, G. A. Bezerra
semanticscholar   +1 more source