Results 21 to 30 of about 161,797 (274)
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]
, 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 +2 more
core +2 more sources
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 We present the case report of a patient with frequently decompensated methylmalonic acidemia (MMA) who was successfully treated with carglumic acid (Carbaglu®, CA). The efficacy and safety of long‐term CA in the management of MMA have been confirmed in a prospective, randomized controlled trial and our report provides additional real‐world evidence on ...
Flavia Tubili +3 more
wiley +1 more source
Non-Enzymatic Formation of N-acetylated Amino Acid Conjugates in Urine
Applied Sciences, 2023 Unknown N-acylated amino acid (N-AAA) conjugates have been detected in maple syrup urine disease (MSUD) and other inborn errors of metabolism (IEMs). This study aimed to elucidate the mechanism behind the formation of urinary N-AAA conjugates.
Jano Jacobs +5 more
doaj +1 more source
Out-of-pocket health expenditures in patients living with ınborn errors of metabolism
Orphanet Journal of Rare Diseases, 2023 Aim The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes.
Mehmet Gündüz +2 more
doaj +1 more source
CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies
WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023 CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey +4 more
wiley +1 more source
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès Saladelafont, Elisenda +16 more
core +1 more source
Reprograming of proteasomal degradation by branched chain amino acid metabolism
Aging Cell, Volume 21, Issue 12, December 2022., 2022 Using genetics and multi‐omics analyses in Caenorhabditis elegans, we identified adaptive regulation of the ubiquitin‐proteasome system (UPS) in response to defective branched chain amino acid (BCAA) metabolism. Worms with impaired BCAA metabolism show slower turnover of a GFP‐based proteasome substrate, which is suppressed by loss‐of‐function of the ...
Sonia Ravanelli +5 more
wiley +1 more source
Cysteine restriction‐specific effects of sulfur amino acid restriction on lipid metabolism
Aging Cell, Volume 21, Issue 12, December 2022., 2022 The proposed mechanism of CR‐specific effects of SAAR on adipose metabolism. (1) Due to the lack of Cys in SAAR diets, it imposes both MR and CR. CR specifically results in decreased biosynthesis of the tripeptide glutathione. (2) Lower hepatic glutathione increases the abundance of the transcription factor Nrf2, which translocates to the nucleus and ...
Sailendra N. Nichenametla +17 more
wiley +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To analyze the clinical phenotype and genetic characteristics of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Methods and Results The proband was one month and 14 days old girl, who presented mental and motor retardation ...
Xin-na JI +7 more
doaj +1 more source
Earwax: A potentially useful medium to identify inborn errors of metabolism?
JIMD Reports, 2020 Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 ...
Stefan Krywawych +3 more
doaj +1 more source