Results 11 to 20 of about 51,822 (359)

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

Metabolites, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +3 more sources

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism [PDF]

International Journal of Molecular Sciences, 2020
Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy.
Dylan Mordaunt, David J. Cox, Maria Fuller   +2 more
openalex   +2 more sources

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening. [PDF]

Turk Arch Pediatr, 2023
Objective: Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism.
Tin O, Zübarioğlu T, Cansever MŞ, Kıykım E, Aktuğlu-Zeybek Ç.   +4 more
europepmc   +2 more sources

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Frontiers in Neuroscience, 2021
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
T. Žigman, Danijela Petković Ramadža, G. Šimić, I. Barić   +3 more
semanticscholar   +1 more source

Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Metabolites, 2021
History suggests that tasteful properties of sugar have been domesticated as far back as 8000 BCE. With origins in New Guinea, the cultivation of sugar quickly spread over centuries of conquest and trade. The product, which quickly integrated into common
Elizabeth L. Lieu, N. Kelekar, Pratibha Bhalla, Jiyeon Kim   +3 more
semanticscholar   +1 more source

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Nature Communications, 2021
Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios
Yurong Cheng, P. Schlosser, Johannes Hertel, P. Sekula, P. Oefner, U. Spiekerkoetter, J. Mielke, Daniel F. Freitag, M. Schmidts, Peter J. Florian Kai-Uwe Oefner Kronenberg Eckardt, Florian Kronenberg, K.-U. Eckardt, Florian Kronenberg, K.-U. Eckardt, I. Thiele, Yong Li, A. Köttgen   +16 more
semanticscholar   +1 more source

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2021
The current diagnostic work‐up of inborn errors of metabolism (IEM) is rapidly moving toward integrative analytical approaches. We aimed to develop an innovative, targeted urine metabolomics (TUM) screening procedure to accelerate the diagnosis of ...
L. Steinbusch, Ping Wang, Huub W. A. H. Waterval, Fons Apm Stassen, K. Coene, U. Engelke, D. Habets, J. Bierau, I. M. Körver-Keularts   +8 more
semanticscholar   +1 more source

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

International Journal of Molecular Sciences, 2020
As an essential vitamin, the role of riboflavin in human diet and health is increasingly being highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and population studies, even in non-developing countries with ...
S. Mosegaard, G. Dipace, P. Bross, J. Carlsen, N. Gregersen, R. Olsen   +5 more
semanticscholar   +1 more source

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet

American Journal of Medical Genetics. Part A, 2021
From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery
H. Vernon, I. Manoli
semanticscholar   +1 more source

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Frontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter   +3 more
doaj   +1 more source