Orphanet Journal of Rare Diseases, 2023 Background Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH).
Jinfu Zhou +7 more
doaj +1 more source
Targeted metabolomic profiling in rat tissues reveals sex differences [PDF]
, 2018 Sex differences affect several diseases and are organ-and parameter-specific. In humans and animals, sex differences also influence the metabolism and homeostasis of amino acids and fatty acids, which are linked to the onset of diseases.
Albano L +9 more
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Term-BLAST-like alignment tool for concept recognition in noisy clinical texts. [PDF]
, 2023 MOTIVATION: Methods for concept recognition (CR) in clinical texts have largely been tested on abstracts or articles from the medical literature. However, texts from electronic health records (EHRs) frequently contain spelling errors, abbreviations, and ...
Bagley, Anita +9 more
core +6 more sources
Diagnosis and management of glutaric aciduria type I – revised recommendations [PDF]
, 2011 Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury
A Boneh +116 more
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Identification and Distribution of Sterols, Bile Acids, and Acylcarnitines by LC-MS/MS in Humans, Mice, and Pigs-A Qualitative Analysis [PDF]
, 2022 Sterols, bile acids, and acylcarnitines are key players in human metabolism. Precise annotations of these metabolites with mass spectrometry analytics are challenging because of the presence of several isomers and stereoisomers, variability in ionization,
Babu Ambrin Farizah +6 more
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Frontiers in Nutrition, 2019 High protein diets may improve the maintenance of skeletal muscle mass in the elderly, although it remains less clear what broader impact such diets have on whole body metabolic regulation in the elderly.
Brenan Durainayagam +21 more
doaj +1 more source
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance [PDF]
, 2018 Testing for inborn errors of metabolism is performed by clinical laboratories worldwide, each utilizing laboratory-developed procedures. We sought to summarize performance in the College of American Pathologists’ (CAP) proficiency testing (PT) program ...
Cowan, Tina M. +6 more
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Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples [PDF]
, 2018 Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuable information for the assessment of ...
Baumgartner, Matthias +8 more
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Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry. [PDF]
, 2023 peer reviewed[en] BACKGROUND: Expanded newborn screening using tandem mass spectrometry (MS/MS) for inborn errors of metabolism (IEM), such as organic acidemias (OAs), fatty acid oxidation disorders (FAODs), and amino acid disorders (AAs), is ...
Meiouet, Faïza +3 more
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Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution [PDF]
, 2018 The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a ...
Superti-Furga, Andrea
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