Characterization of glycan substrates accumulating in GM1 Gangliosidosis

INTRODUCTION: GM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the GLB1 gene that encodes β-galactosidase, a lysosomal hydrolase that removes β-linked galactose from the non-reducing end of glycans. Deficiency of this catabolic enzyme leads to the lysosom...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Mol Genet Metab Rep
मुख्य लेखकों: Lawrence, Roger, Van Vleet, Jeremy L., Mangini, Linley, Harris, Adam, Martin, Nathan, Clark, Wyatt, Chandriani, Sanjay, LeBowitz, Jonathan H., Giugliani, Roberto, d'Azzo, Alessandra, Yogalingam, Gouri, Crawford, Brett E.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2019
विषय:
Research Paper
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6838976/
https://ncbi.nlm.nih.gov/pubmed/31720227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100524
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