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Journal Article
JIMD Reports, ISSN 2192-8304, 2018, Volume 41, pp. 17 - 23
Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural... 
Haematopoietic stem cell transplantation | Late onset | Tay-Sachs disease
Journal Article
01/2014, ISBN 9780123851581
Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder, caused by the accumulation of GM2 ganglioside in neurons. In the classic... 
GM2 gangliosidosis | Autosomal recessive | Ashkenazi Jewish | Hexosaminidase A | Cherry-red spot | Late-onset Tay-Sachs | Tay-Sachs
Book Chapter
02/2013, ISBN 0080961568
Tay-Sachs disease (TSD; also known as G gangliosidoses) is a family of autosomal recessive lysosomal storage diseases due to the absence or markedly deficient... 
Hexosaminidase B | Hexosaminidase A | gangliosidosis | Neurodegenerative | Enzyme deficiency | Lysosomal storage disease | Late-onset G | Infantile-onset G | Substrate | Autosomal recessive | Heterozygotes (carriers) | Tay-Sachs disease | Homozygotes (affecteds)
Book Chapter
The Journal of Neuropsychiatry and Clinical Neurosciences, ISSN 0895-0172, 02/1998, Volume 10, Issue 1, pp. 10 - 19
Journal Article
REVUE NEUROLOGIQUE, ISSN 0035-3787, 1994, Volume 150, Issue 1, pp. 61 - 66
The authors report on a Portuguese family with 3 adult brothers affected with GM2-gangliosidosis (B1 variant) in a sibship of 4, and more specifically on one... 
HEXOSAMINIDASE-A DEFICIENCY | SPINAL MUSCULAR-ATROPHY | AMYOTROPHIC LATERAL SCLEROSIS | JUVENILE | ALPHA-CHAIN | PHENOTYPE | ADULT GM2 GANGLIOSIDOSIS | LATE-ONSET | CLINICAL NEUROLOGY | TAY-SACHS DISEASE | SPINOCEREBELLAR DEGENERATION
Journal Article
SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT, ISSN 0036-7672, 05/1996, Volume 126, Issue 18, pp. 757 - 764
Three adult siblings had atypical progressive spinal muscular atrophy of the limb-girdle type, predominantly sensory polyneuropathy and cerebellar ataxia.... 
A DEFICIENCY | MEDICINE, GENERAL & INTERNAL | SPINAL MUSCULAR-ATROPHY | CHRONIC GM2 GANGLIOSIDOSIS | PHENOTYPE | LATE-ONSET | JUVENILE GM2-GANGLIOSIDOSIS | MOTOR NEURON DISEASE | VARIANT | TAY-SACHS DISEASE | SPINOCEREBELLAR DEGENERATION
Journal Article
2003, 1st Anchor Books ed., ISBN 9780385498388, viii, 294
Book
1999, 2nd ed., ISBN 9780781715034, xvii, 457
Book
1994, ISBN 9780781700818, xv, 472
Book
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