X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (163) 163
beta-hexosaminidase (95) 95
index medicus (92) 92
mutation (91) 91
genetics & heredity (84) 84
animals (71) 71
male (67) 67
tay-sachs disease - genetics (67) 67
female (60) 60
tay-sachs disease (53) 53
beta-n-acetylhexosaminidases - genetics (50) 50
biochemistry & molecular biology (48) 48
sandhoff disease - genetics (43) 43
beta-hexosaminidase beta chain - genetics (42) 42
molecular sequence data (42) 42
polymerase chain reaction (41) 41
mice (40) 40
base sequence (39) 39
hexosaminidase a (37) 37
human beta-hexosaminidase (37) 37
gm2 gangliosidosis (36) 36
beta-hexosaminidase alpha chain - genetics (35) 35
gene (35) 35
tay-sachs-disease (30) 30
disease (28) 28
dna mutational analysis (27) 27
alpha-chain (26) 26
infant (26) 26
medicine, research & experimental (25) 25
enzymes (24) 24
genetic aspects (23) 23
heterozygote (23) 23
sandhoff disease (23) 23
β-hexosaminidase (23) 23
adult (22) 22
disease models, animal (22) 22
expression (22) 22
defect (21) 21
mutations (21) 21
alleles (20) 20
alpha-subunit (20) 20
ashkenazi jews (20) 20
neurosciences (20) 20
phenotype (20) 20
identification (19) 19
mice, knockout (19) 19
tay-sachs disease - diagnosis (19) 19
beta-hexosaminidase-a (18) 18
beta-n-acetylhexosaminidases - metabolism (18) 18
cell biology (18) 18
dna (18) 18
gangliosidosis (18) 18
jews (18) 18
chain (17) 17
g ganglioside - metabolism (17) 17
genetics (17) 17
hexosaminidase b (17) 17
lysosomes - enzymology (17) 17
exons (16) 16
fibroblasts (16) 16
genetic testing (16) 16
child, preschool (15) 15
genes (15) 15
hexa gene (15) 15
hexosaminidase (15) 15
lysosomal storage disease (15) 15
pedigree (15) 15
amino acid sequence (14) 14
carriers (14) 14
cell line (14) 14
cells, cultured (14) 14
clinical neurology (14) 14
hexb gene (14) 14
hexosaminidase alpha-chain (14) 14
jews - genetics (14) 14
mouse models (14) 14
sandhoff disease - diagnosis (14) 14
tay-sachs (14) 14
tay-sachs disease - enzymology (14) 14
analysis (13) 13
beta-hexosaminidase beta chain - metabolism (13) 13
biotechnology & applied microbiology (13) 13
child (13) 13
gangliosides (13) 13
gene expression (13) 13
genotype (13) 13
molecular-basis (13) 13
research article (13) 13
sandhoff disease - pathology (13) 13
subunit (13) 13
article (12) 12
g gangliosidosis (12) 12
introns (12) 12
messenger-rna (12) 12
models, molecular (12) 12
research (12) 12
sandhoff disease - metabolism (12) 12
adult gm2 gangliosidosis (11) 11
beta-hexosaminidase alpha chain - metabolism (11) 11
gangliosidoses, gm2 - genetics (11) 11
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Gene Therapy, ISSN 1043-0342, 03/2018, Volume 29, Issue 3, pp. 312 - 326
Journal Article
Molecular Therapy, ISSN 1525-0016, 03/2015, Volume 23, Issue 3, pp. 414 - 422
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
Journal Article
Journal Article
Journal Article