Results 61 to 70 of about 954 (132)
Development of gas chromatography/mass spectrometry analysis of urinary acylcarnitines : application to metabolism studies [PDF]
, 1991 The metabolism of fatty acids in humans is recognized as an important source of energy. It is especially vital to newborn infants when metabolic pathways are often stressed as the early stages of life demand fundamental changes and developments of body ...
Lowes, Stephen
core +1 more source
Horse with myopathy caused by consumption of box elder tree seedlings in the Czech Republic
Equine Veterinary Education, Volume 37, Issue 5, Page e77-e84, May 2025.Summary An 18‐year‐old Saxon Warmblood gelding was referred to an equine clinic in the Czech Republic in May 2019 for mild colic. The horse had 7 h of grazing and 30–45 min of exercise every day. At the clinic, physical examination ruled out gastrointestinal disease, while clinical pathology confirmed rhabdomyolysis (creatine kinase 29,088 IU/L ...
P. Jahn +6 more
wiley +1 more source
2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report
JIMD Reports, Volume 66, Issue 2, March 2025.ABSTRACT Multiple acyl‐CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late‐onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late‐onset symptom debut at 52 years of age.
Astrid Høj +8 more
wiley +1 more source
Maternal Glutaric aciduria type I and newborn screening [PDF]
, 2019 Introduction: Expanded Newborn Screening (NBS) programs based on MS/MS, result in a massive increase of screened metabolic disorders and detected patients.
Carvalho, Ivone +10 more
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Machine learning models in decision support systems for diagnosing colorectal cancer based on metabolic profiles [PDF]
, 2023 In today’s ever-evolving technological landscape, the volume of data across sectors is grow ing, particularly in healthcare. Here, the gathering and processing of biochemical data aim to refine decision-making for patient treatments, especially using ...
Barbosa, Rui Xavier Ferreira
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Brain and Behavior, Volume 15, Issue 2, February 2025.This study reported two new cases and characterized the phenotype and genotype of adult‐onset glutaric aciduria Type 1 by literature review, emphasizing subependymal lesions and the coexistence of hyperhomocysteinemia. No clear genotype–phenotype correlation was found in adult‐onset glutaric aciduria Type 1. ABSTRACT Introduction Glutaric aciduria Type
Luhua Wei +10 more
wiley +1 more source
Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution. [PDF]
, 2003 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, A.
core +1 more source
Metabolic serendipities of expanded newborn screening [PDF]
, 2020 Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target.
Raquel Yahyaoui +11 more
core +2 more sources
JIMD Reports, Volume 65, Issue 6, Page 433-441, November 2024.Abstract Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl‐CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3‐hydroxyglutaric acid (3‐HG). Some low excretors may exhibit only slight elevation of urinary 3‐HG, with normal urinary GA, yet are at significant risk of severe clinical ...
Denis Cyr +3 more
wiley +1 more source
The Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) [PDF]
, 2020 Study, a randomized controlled cancer prevention trial, showed a 32% reduction in prostate cancer incidence in response to vitamin E supplementation. Two other trials were not confirmatory, however. Objective.
Alison M Mondul +7 more
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