Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity [PDF]
, 2017 Background: Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder.
Bodamer, Olaf +6 more
core +1 more source
A benzene-degrading nitrate-reducing microbial consortium displays aerobic and anaerobic benzene degradation pathways [PDF]
, 2018 All sequence data from this study were deposited at the European Bioinformatics Institute under the accession numbers ERS1670018 to ERS1670023. Further, all assigned genes, taxonomy, function, sequences of contigs, genes and proteins can be found in ...
A Chang +98 more
core +6 more sources
Hypoglycaemia related to inherited metabolic diseases in adults
Orphanet Journal of Rare Diseases, 2012 In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious.
Douillard Claire +5 more
doaj +1 more source
Folding of the Protein Domain hbSBD [PDF]
Biophysical J. 89, 3353 (2005), 2006 The folding of the alpha-helice domain hbSBD of the mammalian mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex is studied by the circular dichroism technique in absence of urea. Thermal denaturation is used to evaluate various thermodynamic parameters defining the equilibrium unfolding, which is well described by the two-state ...
arxiv +1 more source
Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations [PDF]
, 2010 Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase. Although over 400 patients confirmed as GA I have been reported, reports from the Asian population had contributed to the minor ...
Chae, Jong Hee +9 more
core +2 more sources
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS [PDF]
, 2021 Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life.
Bulut, D +8 more
core
Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. [PDF]
PLoS ONE, 2013 Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap.
Paris Jafari +5 more
doaj +1 more source
Network Analysis of Biochemical Logic for Noise Reduction and Stability: A System of Three Coupled Enzymatic AND Gates [PDF]
J. Phys. Chem. B 113, 5301--5310 (2009), 2008 We develop an approach aimed at optimizing the parameters of a network of biochemical logic gates for reduction of the "analog" noise buildup. Experiments for three coupled enzymatic AND gates are reported, illustrating our procedure. Specifically, starch - one of the controlled network inputs - is converted to maltose by beta-amylase.
arxiv +1 more source
Exploring the biosynthetic pathways of glutamate and benzoate in Syntrophus aciditrophicus [PDF]
, 2011 In syntrophischer Lebensweise oxidiert Syntrophus aciditrophicus Benzoat zu Acetat und CO2, während axenische Kulturen Crotonat zu Acetat und Cyclohexancarboxylat mit etwas Benzoat fermentieren.
Kim, Marie
core +1 more source
Rescue of Glutaric Aciduria Type I in Mice by Liver-Directed Therapies [PDF]
, 2023 Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism.
Asokan, Aravind +21 more
core +2 more sources