Urine oligosaccharide tests for the diagnosis of oligosaccharidoses
Reviews in Analytical Chemistry, 2017 This review discusses the development of capillary electrophoresis with laser-induced detection and mass spectrometry techniques for the analysis of urinary oligosaccharides to screen for human oligosaccharidoses and related disorders.
Casado Mecedes +4 more
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Molecular Pathogenesis and Therapeutic Approach of GM2 Gangliosidosis
YAKUGAKU ZASSHI, 2013 Tay-Sachs and Sandhoff diseases (GM2 gangliosidoses) are autosomal recessive lysosomal storage diseases caused by gene mutations in HEXA and HEXB, each encoding human lysosomal β-hexosaminidase α-subunits and β-subunits, respectively. In Tay-Sachs disease, excessive accumulation of GM2 ganglioside (GM2), mainly in the central nervous system, is caused ...
openaire +3 more sources
A Rapid and Sensitive Method for Measuring NAcetylglucosaminidase Activity in Cultured Cells [PDF]
, 2013 A rapid and sensitive method to quantitatively assess N-acetylglucosaminidase (NAG) activity in cultured cells is highly desirable for both basic research and clinical studies.
A Cressant +83 more
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Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
PLoS ONE, 2018 ObjectiveHypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans.
Haoran Ji +26 more
doaj +1 more source
Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]
, 2020 GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
Hirokawa, Takatsugu +6 more
core
A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]
, 2015 Bradbury, Allison M +5 more
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Tay-Sachs disease: a case report
The Turkish Journal of Pediatrics, 1995 Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A.
A E Arisoy, S Ozden, G Ciliv, I Ozalp
doaj
Ursodeoxycholic Acid Binds PERK and Ameliorates Neurite Atrophy in a Cellular Model of GM2 Gangliosidosis. [PDF]
Int J Mol Sci, 2023 Morales C +5 more
europepmc +1 more source
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis. [PDF]
Mol Genet Metab, 2021 Rowe OE +9 more
europepmc +1 more source
Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature [PDF]
, 2012 This is a case report of late onset Tay-Sachs Disease diagnosed in a 14-year-old male non-Jewish adolescent who presented in a psychotic and catatonic state. The objective is to emphasize that Tay-Sachs disease can present with psychiatric symptoms, with
Saleh, Osama, M.D.
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