Zobrazeno 1 - 10
of 362
pro vyhledávání: '"galc"'
Autor:
Maghazachi AA
Publikováno v:
ImmunoTargets and Therapy, Vol Volume 12, Pp 105-111 (2023)
Azzam A Maghazachi Research Department, ImmnoProfiling and Boosting, Oslo, NorwayCorrespondence: Azzam A Maghazachi, Research Department, ImmunoProfiling and Boosting (IPAB), Oslo, Norway, Email azzammaghazachi2016@gmail.comAbstract: Globoid cell leu
Externí odkaz:
https://doaj.org/article/237748553a7e4b23bad9de4eb757434c
Autor:
Samantha Hammack, Devon Wallis Hague, Miranda D. Vieson, Elizabeth Esdaile, Shayne S. Hughes, Rebecca R. Bellone, Annette M. McCoy
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 37, Iss 5, Pp 1710-1715 (2023)
Abstract Background Globoid cell leukodystrophy (GCL) is a fatal autosomal recessive disease caused by variants in the galactosylceramidase (GALC) gene. Two dog breed‐specific variants are reported. Objectives Characterize the putatively causative
Externí odkaz:
https://doaj.org/article/5e750c089bc3462eb10b5c2bebeedfc9
Autor:
Mohammad A. Rafi
Publikováno v:
BioImpacts, Vol 12, Iss 1, Pp 3-7 (2022)
Introduction: Krabbe disease (KD) or globoid cell leukodystrophy (GLD) is one of the lysosomal disorders affecting central and peripheral nervous systems (CNS and PNS). It is caused by mutations on the galactocerebrosidase (GALC) gene. Affected indiv
Externí odkaz:
https://doaj.org/article/792a8b2904c04e88a5757872b1ce2078
Akademický článek
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Akademický článek
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Autor:
Yu Wang, Su-yue Wang, Kai Li, Yu-long Zhu, Kun Xia, Dan-dan Sun, Wen-long Ai, Xiao-ming Fu, Qun-rong Ye, Jun Li, Huai-zhen Chen
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive condition caused by mutations in the galactocerebrosidase (GALC) gene. KD is more common in infants and young children than in adults. We reported the case
Externí odkaz:
https://doaj.org/article/594cc85923ff45f7b31c9abdb528f98a
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Globoid cell leukodystrophy (GLD), or Krabbe disease (KD) is a rare neurodegenerative disease, and adult-onset GLD is more even neglected by clinicians. This review provides detailed discussions of the serum enzymes, genes, clinical manifestations, n
Externí odkaz:
https://doaj.org/article/688474f2cffa4330b48ae47c0fcff8b0
Autor:
Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, Stefanie Beck-Wödl, Ralf A. Husain, Ludger Schöls, Christiane Kehrer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-17 (2020)
Abstract Background Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to describe the natur
Externí odkaz:
https://doaj.org/article/e189111cbc8140d9aa1744a847b61cce
Publikováno v:
Pharmaceuticals, Vol 16, Iss 4, p 624 (2023)
Krabbe disease is a rare neurodegenerative fatal disease. It is caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC), which results in progressive accumulation of galactolipid substrates in myelin-forming cells. However, there is
Externí odkaz:
https://doaj.org/article/0b15937909d4498f8982ff1e167d90da
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Krabbe disease is caused by biallelic mutations of GALC gene. NDUFAF1 gene mutations are related to mitochondrial encephalopathy. To date, there has been no report on the co-pathogenesis of these two gene mutations. There were three child
Externí odkaz:
https://doaj.org/article/36d574ed2faf4cf7b50e6142f6e8e569