Results 41 to 50 of about 2,273 (178)

Vastsündinute laiendatud sõeluurimise juurutamine Eestis 19 kaasasündinud ainevahetushaiguse suhtes: esimese 1,5 aasta tulemuste kokkuvõte [PDF]

, 2016
Taust. 1993. aastast alates on Eestis vastsündinuid sõeluuritud fenüülketonuuria ja 1996. aastast alates kaasasündinud hüpotüreoosi suhtes. Enamikus arenenud riikides kasutatakse vastsündinute sõeltestimisel tandem-mass-spektromeetriat, mis võimaldab ...
Ilo, Ursula, Kriisa, Annika, Künnapas, Kadi, Muru, Kai, Reinson, Karit, Vals, Mari-Anne, Õunap, Katrin   +6 more
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Deglutarylation of glutaryl-CoA dehydrogenase by deacylating enzyme SIRT5 promotes lysine oxidation in mice [PDF]

, 2022
A wide range of protein acyl modifications has been identified on enzymes across various metabolic processes; however, the impact of these modifications remains poorly understood.
Adams, Alexander E, Anderson, Kristin A, Backos, Donald S, Bhatt, Dhaval P, Francisco, Sara, Gomes, Cláudio M, Grimsrud, Paul A, Henriques, Bárbara J, Hirschey, Matthew D, Ilkayeva, Olga R, Kulkarni, Shreyas R, Liu, Juan, Lucas, Tânia G, Major, Michael B, Mills, C Allie   +14 more
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Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

Orphanet Journal of Rare Diseases, 2021
Background Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene.
Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng, Dongmei Chen   +6 more
doaj   +1 more source

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I [PDF]

, 2015
Background: Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail.
Boy, Nikolas, Burgard, Peter, Garbade, Sven F., Glahn, Esther M., Haege, Gisela, Heringer, Jana, Hoffmann, Georg F., Kölker, Stefan   +7 more
core   +1 more source

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, Boy, Nikolas, Brackmann, Renate, Harting, Inga, Heringer, Jana, Kölker, Stefan, Seitz, Angelika   +6 more
core   +1 more source

Striatal neuronal death mediated by astrocytes from the Gcdh−/− mouse model of glutaric acidemia type I [PDF]

Human Molecular Genetics, 2015
Glutaric acidemia type I (GA-I) is an inherited neurometabolic childhood disorder caused by defective activity of glutaryl CoA dehydrogenase (GCDH) which disturb lysine (Lys) and tryptophan catabolism leading to neurotoxic accumulation of glutaric acid (GA) and related metabolites.
Silvia, Olivera-Bravo, César A J, Ribeiro, Eugenia, Isasi, Emiliano, Trías, Guilhian, Leipnitz, Pablo, Díaz-Amarilla, Michael, Woontner, Cheryl, Beck, Stephen I, Goodman, Diogo, Souza, Moacir, Wajner, Luis, Barbeito   +11 more
openaire   +2 more sources

Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Annals of Movement Disorders, 2021
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with ...
Ayush Agarwal, Divyani Garg, Sangeeta Agarwal   +2 more
doaj   +1 more source

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity

Cell Reports, 2018
Summary: Lysine glutarylation (Kglu) of mitochondrial proteins is associated with glutaryl-CoA dehydrogenase (GCDH) deficiency, which impairs lysine/tryptophan degradation and causes destruction of striatal neurons during catabolic crisis with subsequent
Jessica Schmiesing, Stephan Storch, Ann-Cathrin Dörfler, Michaela Schweizer, Georgia Makrypidi-Fraune, Melanie Thelen, Marc Sylvester, Volkmar Gieselmann, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Henning Tidow, Chris Mühlhausen, Abdul Waheed, William S. Sly, Thomas Braulke   +14 more
doaj   +1 more source

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

Orphanet Journal of Rare Diseases, 2023
Background Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH).
Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo, Liangpu Xu   +7 more
doaj   +1 more source

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2021
Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society.
Jianqiang Tan, Dayu Chen, Rongni Chang, Lizhen Pan, Jinling Yang, Dejian Yuan, Lihua Huang, Tizhen Yan, Haiping Ning, Jiangyan Wei, Ren Cai   +10 more
doaj   +1 more source