Results 11 to 20 of about 39,378 (276)
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 ...
Israa T Ismail +2 more
semanticscholar +4 more sources
Carnitine Inborn Errors of Metabolism [PDF]
Molecules, 2019 Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%.
M. Almannai, M. Alfadhel, A. El-Hattab
semanticscholar +4 more sources
Orphanet Journal of Rare Diseases, 2018 The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri +8 more
doaj +1 more source
Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism
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.
D. Mordaunt, David Cox, M. Fuller
semanticscholar +1 more source
Inborn errors of metabolism: Lessons from iPSC models [PDF]
, 2021 The possibility of reprogramming human somatic cells to pluripotency has opened unprecedented opportunities for creating genuinely human experimental models of disease.
Escribá, Rubén +2 more
core +1 more source
Scientific Reports, 2023 The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron +6 more
doaj +1 more source
Journal of clinical laboratory analysis (Print), 2020 Tandem mass spectrometry is a powerful technology available in China over the last 15 years. The development of tandem mass spectrometry had made it possible to rapidly screen newborns for inborn errors of metabolism.
Shujun Ma +8 more
semanticscholar +1 more source
Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]
, 2017 Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core +2 more sources
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia [PDF]
, 2016 How to Cite This Article: Najafi R, Hashemipour M, Mostofizadeh N, Ghazavi MR, Nasiri J, Shahsanai A, Famori F, Najafi F, Moafi M. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iran J Child Neurol.
FAMORI, Fatemeh +8 more
core +2 more sources
Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]
, 2011 BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Al Bu Ali, Waleed Hamad +3 more
core +3 more sources