Results 21 to 30 of about 2,734,131 (399)
The Journal of Applied Laboratory Medicine, 2020 BACKGROUND The application of whole-exome sequencing for the diagnosis of genetic disease has paved the way for systems-based approaches in the clinical laboratory.
Lisa A. Ford +10 more
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
European Journal of Immunology, Volume 53, Issue 1, January 2023., 2023 Modern surgical (technical) possibilities enable pleural macrophage isolation and analyses regardless the person`s age. Transcriptome profiling of macrophages from healthy or sick individuals revealed that these cells express high levels of metallothioneins, metal‐binding proteins that are involved in heavy metal detoxification, antioxidative defense ...
Nagoud Schukfeh +11 more
wiley +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
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
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
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
Common 'Inborn Errors' of Metabolism in the General Population [PDF]
, 2021 Inborn errors of metabolism (IEMs) are a group of disorders characterised by the toxic accumulation or deficiency of circulating molecules (‘metabolites’) caused by rare genetic mutations.
Au Yeung, Victoria
core +1 more source
Universal scaling relation and criticality in metabolism and growth of Escherichia coli [PDF]
Phys. Rev. Research 6, 013035 (2024), 2023 The metabolic network plays a crucial role in regulating bacterial metabolism and growth, but it is subject to inherent molecular stochasticity. Previous studies have utilized flux balance analysis and the maximum entropy method to predict metabolic fluxes and growth rates, while the underlying principles governing bacterial metabolism and growth ...
arxiv +1 more source