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Neuropediatrics, ISSN 0174-304X, 04/2017, Volume 48, Issue 2, pp. 127 - 130
Abstract GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein. We report on two patients with... 
Short Communication | GM2 gangliosidosis | activator protein | sphingolipidoses | Tay-Sachs' disease | GM2-GANGLIOSIDOSIS | SPECTROSCOPY | MRI | PEDIATRICS | CLINICAL NEUROLOGY
Journal Article
Journal of Zoo and Wildlife Medicine, ISSN 1042-7260, 06/2018, Volume 49, Issue 2, pp. 335 - 344
This study reports the occurrence of the lysosomal storage disease GM2 gangliosidosis (Sandhoff disease) in two 11-mo-old captive-bred, male and female... 
Pathology | Gangliosidosis | Banded mongoose | Sandhoff disease | Hereditary disease | Mungos mungo | hereditary disease | CATS | pathology | gangliosidosis | GM2-GANGLIOSIDOSIS | MODEL | DEFICIENCY | METABOLISM | VETERINARY SCIENCES | MICE | TAY-SACHS-DISEASE | DOG
Journal Article
JOURNAL OF MOLECULAR BIOLOGY, ISSN 0022-2836, 06/2006, Volume 359, Issue 4, pp. 913 - 929
Journal Article
JOURNAL OF COMPARATIVE PATHOLOGY, ISSN 0021-9975, 02/2014, Volume 150, Issue 2-3, pp. 253 - 257
G(M2) gangliosidosis (Tay Sachs disease) was diagnosed in 6- to 8-month-old pedigree Jacob lambs from two unrelated flocks presenting clinically with... 
Tay-Sachs disease | GM2-GANGLIOSIDOSIS | Jacob sheep | GM2 GANGLIOSIDOSIS | G(M2) gangliosidosis | VETERINARY SCIENCES | ANIMAL-MODEL | PATHOLOGY | LYSOSOMAL STORAGE DISORDERS | TAY-SACHS-DISEASE
Journal Article
Gene, ISSN 0378-1119, 05/2012, Volume 499, Issue 2, pp. 262 - 265
Tay–Sachs disease (TSD) is a recessively inherited disorder caused by the deficient activity of hexosaminidase A due to mutations in the gene. Up to date there... 
GM2 gangliosidosis | Haplotype analysis | Mutational analysis | DIAGNOSIS | ALPHA-SUBUNIT | GENETICS & HEREDITY | BETA-HEXOSAMINIDASE | GM2-GANGLIOSIDOSIS-B1 VARIANT | ASHKENAZI JEWS | Humans | Female | Infant | Male | Hexosaminidase A - genetics | Mutation | Child | Tay-Sachs Disease - genetics | Cohort Studies
Journal Article
VETERINARY RECORD, ISSN 0042-4900, 12/2004, Volume 155, Issue 23, pp. 739 - 744
A five-month-old, female Japanese domestic shorthair cat with proportionate dwarfism developed neurological disorders, including ataxia, decreased postural... 
DIAGNOSIS | LEUKOCYTES | GM2-GANGLIOSIDOSIS | GM2 GANGLIOSIDOSIS | VETERINARY SCIENCES | LYSOSOMAL STORAGE DISEASES | MODEL | PATHOLOGY | CEREBROSPINAL-FLUID | DOG | DEFICIENCY
Journal Article
AMERICAN JOURNAL OF NEURORADIOLOGY, ISSN 0195-6108, 09/2005, Volume 26, Issue 8, pp. 2037 - 2042
BACKGROUND AND PURPOSE: Despite the ubiquity of Gm, gangliosides accumulation in patients with late-onset G(M2) gangliosidosis (G(M2)G), the only clinical MR... 
CHEMICAL PATHOLOGY | HUMAN BRAIN | GM2-GANGLIOSIDOSIS | GM2 GANGLIOSIDOSIS | LYSOSOMAL STORAGE | MAGNETIC-RESONANCE SPECTROSCOPY | NEUROIMAGING | CLINICAL NEUROLOGY | HEXOSAMINIDASE-A DEFICIENCY | REMITTING MULTIPLE-SCLEROSIS | NMR-SPECTRA | TAY-SACHS-DISEASE | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 06/2007, Volume 101, Issue 5, pp. 1294 - 1302
Journal Article
CANADIAN VETERINARY JOURNAL-REVUE VETERINAIRE CANADIENNE, ISSN 0008-5286, 03/2005, Volume 46, Issue 3, pp. 275 - 275
Journal Article