Results 41 to 50 of about 6,761,337 (191)

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

Glutaryl-CoA dehydrogenase: a key biomarker linking lysine degradation to hepatocellular carcinoma metastasis and prognosis via NF-KB signaling pathway. [PDF]

J Gastrointest Oncol
Background Metastasis is the primary cause of mortality in patients with hepatocellular carcinoma (HCC). Metabolic reprogramming is a well-known hallmark of cancer metastasis.
Hu Q, Huang S, Li Z, Yu Y, Yu S, Wu D, Tai S.   +6 more
europepmc   +2 more sources

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

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

Frontiers in Genetics, 2021
PurposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.MethodsWe analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland ...
Huishu E., Lili Liang, Huiwen Zhang, Wenjuan Qiu, Jun Ye, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han   +8 more
doaj   +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

Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application

Genes, 2023
Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (GCDH) that lead to deficiency of GCDH protein.
Alexandra Tibelius, Christina Evers, Sabrina Oeser, Isabelle Rinke, A. Jauch, K. Hinderhofer   +5 more
semanticscholar   +1 more source

Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families

Нервно-мышечные болезни, 2021
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase.
S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P.   Vorontsova, D.  I.   Gribov, M.   V. Zhivihina, A. N.   Slatetskaya, R.  V.   Magzhanov, V. A.  Samokhvalov, M.  N.  Virtseva, L.     P. Borscheva, E.  E.  Koh, M.   V.  Novikova, A. V.   Abrukova, E.     Yu. Belyashova, N.    Yu. Gerasimenko, L.     V. Guseva, Zh.     V. Yukhimenko, N.     V. Nikitina, T.  I.   Belyaeva, T.   A.  Shkurko, N.   A.  Pichkur, V.     S. Kakaulina, N.   L. Pechatnikova, N .  A. Polyakova, S.    A. Korostelev, D.    V. Pyankov, I.   V. Kanivets, N.   A.  Demina, E.     Yu. Pyrkova, G.     V. Baidakova, M.    V. Kurkina, E.   Yu.  Zakharova   +32 more
doaj   +1 more source

Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1. [PDF]

Cureus
Glutaric aciduria type 1 (GA-1) is a rare autosomal recessive metabolic disorder caused by the deficient activity of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH).
Srivastava P, Biswal SS, Kumar R, Swaroop S, Tanti SK.   +4 more
europepmc   +2 more sources

Resolving candidate genes of mouse skeletal muscle QTL via RNA-Seq and expression network analyses [PDF]

, 2012
Peer reviewedPublisher ...
Blizard, David A, Carroll, Andrew M, Derry, Jonathan M J, Lionikas, Arimantas, Meharg, Caroline, Ratkevicius, Aivaras, Vandenbergh, David J   +6 more
core   +2 more sources

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

International Journal of Neonatal Screening, 2021
Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase.
Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut   +13 more
doaj   +1 more source