Frontiers in Genetics, 2020 Direct mutation analysis is the major method for glutaric acidemia I (GA-I) prenatal diagnosis, while systemic application of a biochemical strategy is rare.
Bing Xiao +23 more
doaj +1 more source
Distinct Metabolomic Alterations Are Associated With Physical Function, Weight Loss, and Muscle Mass in Men With Cancer. [PDF]
J Cachexia Sarcopenia MuscleABSTRACT Background Treatments for cancer cachexia, defined as involuntary weight and muscle mass loss leading to significant functional impairment, remain unavailable partly due to insufficient improvement of clinically meaningful outcomes in current trials.
Anderson LJ +9 more
europepmc +2 more sources
Identification of the plasma metabolomics as early diagnostic markers between biliary atresia and neonatal hepatitis syndrome. [PDF]
PLoS ONE, 2014 Early detection is the most effective way to improve the clinical outcome of biliary atresia (BA). Emerging metabolomics provides a powerful platform for discovering novel biomarkers and biochemical pathways to improve early diagnosis.
Dongying Zhao +4 more
doaj +1 more source
International Journal of Neonatal Screening, 2020 Newborn screening (NBS) laboratories cannot accurately compare mass spectrometry-derived results and cutoff values due to differences in testing methodologies.
Charles Austin Pickens +10 more
doaj +1 more source
Black raspberry-mediated metabolic changes in patients with familial adenomatous polyposis associated with rectal polyp regression. [PDF]
Food FrontUrinary and plasma specimens of FAP patients who received a 9‐month BRB intervention were used for metabolic profiling. BRBs significantly changed levels of 23 urinary and 6 plasma metabolites. Abstract Familial adenomatous polyposis (FAP) patients face an almost certain 100% risk of developing colorectal cancer, necessitating prophylactic colectomy to
Huang YW +6 more
europepmc +2 more sources
Untargeted metabolomics of colonic digests reveals kynurenine pathway metabolites, dityrosine and 3-dehydroxycarnitine as red versus white meat discriminating metabolites [PDF]
, 2016 Epidemiological research has demonstrated that the consumption of red meat is an important risk factor for the development of colorectal cancer (CRC), diabetes mellitus and cardiovascular diseases.
De Smet, S. +5 more
core +2 more sources
The metabolomic profiling of total fat and fat distribution in a multi-cohort study of women and men
Scientific Reports, 2023 Currently studies aiming for the comprehensive metabolomics profiling of measured total fat (%) as well as fat distribution in both sexes are lacking. In this work, bioimpedance analysis was applied to measure total fat (%) and fat distribution (trunk to
Rui Zheng +4 more
doaj +1 more source
Rescue of Glutaric Aciduria Type I in Mice by Liver-Directed Therapies [PDF]
, 2023 Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism.
Asokan, Aravind +21 more
core +2 more sources
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment [PDF]
, 2010 We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild
Alida E. M. Stroomer +25 more
core +3 more sources
Clinical Genetics, Volume 103, Issue 6, Page 644-654, June 2023., 2023 Differences in secondary free carnitine (C0) deficiency and biochemical phenotypes related to genotype (ACADM) and age are reported. C0 deficiency occurred earlier and more frequently in c.985A>G homozygotes compared to other pathogenic genotypes. No patient carrying c.199C>T developed C0 deficiency.
Katharina J. Weiss +9 more
wiley +1 more source