In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay‒Sachs disease [PDF]
, 2020 Fazal, Mohammad Ihsan +2 more
core +1 more source
Systematic review of autosomal recessive ataxias and proposal for a classification [PDF]
, 2017 Christopher J. Klein +3 more
core +1 more source
Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. [PDF]
J Vet Intern Med, 2018 Wang P +5 more
europepmc +1 more source
White Matter Changes in GM2 Gangliosidosis
Journal of Case Reports, 2017 Divya Neha Pharasi, Sudhir Mishra
openaire +1 more source
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. [PDF]
BMC Pediatr, 2016 Sheth J +5 more
europepmc +1 more source
Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study. [PDF]
Orphanet J Rare DisRodriguez MB +8 more
europepmc +1 more source
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. [PDF]
JIMD Rep, 2016 Renaud D, Brodsky M.
europepmc +1 more source
Molecular Therapy for Lysosomal Storage Diseases [PDF]
, 2013 Itoh, Kohji, Tsuji, Daisuke
core +2 more sources
New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]
J Lipid ResSidorina A +6 more
europepmc +1 more source
Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model. [PDF]
J Clin Invest, 2016 Kitakaze K +15 more
europepmc +1 more source