[HTML][HTML] Genetics of mitochondrial diseases: Identifying mutations to help diagnosis
SL Stenton, H Prokisch - EBioMedicine, 2020 - thelancet.com
Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …
of inherited diseases. The vast phenotypic overlap with other disease entities together with …
The biology of ergothioneine, an antioxidant nutraceutical
Ergothioneine (ERG) is an unusual thio-histidine betaine amino acid that has potent
antioxidant activities. It is synthesised by a variety of microbes, especially fungi (including in …
antioxidant activities. It is synthesised by a variety of microbes, especially fungi (including in …
[HTML][HTML] Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
EMM Hoytema van Konijnenburg, SB Wortmann… - Orphanet journal of rare …, 2021 - Springer
Abstract Background The Treatable ID App was created in 2012 as digital tool to improve
early recognition and intervention for treatable inherited metabolic disorders (IMDs) …
early recognition and intervention for treatable inherited metabolic disorders (IMDs) …
[HTML][HTML] Metabolomics: A scoping review of its role as a tool for disease biomarker discovery in selected non-communicable diseases
Metabolomics is a branch of 'omics' sciences that utilises a couple of analytical tools for the
identification of small molecules (metabolites) in a given sample. The overarching goal of …
identification of small molecules (metabolites) in a given sample. The overarching goal of …
Comparison of untargeted metabolomic profiling vs traditional metabolic screening to identify inborn errors of metabolism
N Liu, J Xiao, C Gijavanekar, KL Pappan… - JAMA Network …, 2021 - jamanetwork.com
Importance Recent advances in newborn screening (NBS) have improved the diagnosis of
inborn errors of metabolism (IEMs); however, many potentially treatable IEMs are not …
inborn errors of metabolism (IEMs); however, many potentially treatable IEMs are not …
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
SB Wortmann, MM Oud, M Alders… - Journal of Inherited …, 2022 - Wiley Online Library
Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …
created tremendous improvement in achieving an accurate and timely molecular diagnosis …
Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing
AD Kennedy, BM Wittmann, AM Evans… - Journal of Mass …, 2018 - Wiley Online Library
Metabolomics is the untargeted measurement of the metabolome, which is composed of the
complement of small molecules detected in a biological sample. As such, metabolomic …
complement of small molecules detected in a biological sample. As such, metabolomic …
[HTML][HTML] Inborn errors of metabolism in the era of untargeted metabolomics and lipidomics
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 …
incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways …
[HTML][HTML] Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
UFH Engelke, RE Van Outersterp… - The Journal of …, 2021 - Am Soc Clin Investig
Background Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine
catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants …
catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants …