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Iranian Journal of Child Neurology, ISSN 1735-4668, 2014, Volume 8, Issue 3, pp. 55 - 60
GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a... 
Genetic disorders | Neurometabolic disorders | Sandhoff disease | Tay sachs disease | Original | Tay Sachs disease
Journal Article
Journal Article
Journal Article
Journal of Zoo and Wildlife Medicine, ISSN 1042-7260, 06/2018, Volume 49, Issue 2, pp. 335 - 344
Journal Article
International Journal of Dermatology, ISSN 0011-9059, 06/2014, Volume 53, Issue 6, pp. 736 - 738
Dermal melanocytosis (DM) is described as the presence of ectopic melanocytes in the dermis and could be a normal cutaneous finding. However, diffuse DM or... 
GANGLIOSIDOSIS | EXTENSIVE MONGOLIAN SPOTS | DERMATOLOGY | Prognosis | Risk Assessment | Mucopolysaccharidosis VI - diagnosis | Humans | Melanocytes - pathology | Skin Neoplasms - diagnosis | Child, Preschool | Sandhoff Disease - diagnosis | Female | Infant | Mongolian Spot - diagnosis | Sampling Studies | Mucopolysaccharidosis | Index Medicus
Journal Article
Journal of the American Animal Hospital Association, ISSN 0587-2871, 11/2015, Volume 51, Issue 6, pp. 396 - 400
GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive, neurodegenerative lysosomal storage disease caused by simultaneous deficiencies of... 
MR, magnetic resonance | Hex, acid ß-hexosaminidase | SD, Sandhoff disease | DIAGNOSIS | VETERINARY SCIENCES | TOY POODLES | G(M2)-GANGLIOSIDOSIS | GOLDEN RETRIEVER | Animals | Sandhoff Disease - pathology | Sandhoff Disease - veterinary | Dogs | Fatal Outcome | Sandhoff Disease - diagnosis | Male | Dog Diseases - diagnosis | Dog Diseases - pathology
Journal Article
Neurology, ISSN 0028-3878, 08/2011, Volume 77, Issue 5, pp. e34 - E34
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 02/2016, Volume 61, Issue 2, pp. 163 - 166
Sandhoff disease (SD) is an autosomal recessive neurodegenerative lysosomal storage disorder caused by mutations in HEXB gene. Molecular pathology is unknown... 
ALLELES | HEXB GENE | GM2 GANGLIOSIDOSIS | GENETICS & HEREDITY | beta-Hexosaminidase beta Chain - genetics | beta-Hexosaminidase beta Chain - metabolism | Humans | Child, Preschool | Sandhoff Disease - diagnosis | Sandhoff Disease - genetics | Infant | Mutation | Sandhoff Disease - enzymology
Journal Article
ARCHIVOS ARGENTINOS DE PEDIATRIA, ISSN 0325-0075, 10/2017, Volume 115, Issue 5, pp. E298 - E301
Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile,... 
HEXB gene | PEDIATRICS | MUTATIONS | GM2 gangliosidoses | GENE | juvenile Sandhoff disease | Sandhoff Disease - diagnosis | Male | Argentina | Sandhoff Disease - classification | Child | Humans
Journal Article
Annals of Neurology, ISSN 0364-5134, 01/2014, Volume 75, Issue 1, pp. 127 - 137
Objective To facilitate development of novel disease‐modifying therapies for lysosomal storage disorder (LSDs) characterized by nervous system involvement such... 
TWITCHER MOUSE | METACHROMATIC LEUKODYSTROPHY | STORAGE DISORDERS | CENTRAL-NERVOUS-SYSTEM | GENE-THERAPY | MODEL | SANDHOFF-DISEASE | EXPRESSION | NEUROSCIENCES | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | BLOOD | Disease | Patients | Rodents | Original
Journal Article
Journal Article
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