Class information for:
Level 1: SANDHOFF DISEASE//GM2 GANGLIOSIDOSIS//TAY SACHS DISEASE

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
12163 927 30.9 64%


Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
0 4 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//ONCOLOGY 4064930
551 3       FABRY DISEASE//GAUCHER DISEASE//LYSOSOMAL STORAGE DISEASE 18099
491 2             GAUCHER DISEASE//LYSOSOMAL STORAGE DISEASE//MUCOPOLYSACCHARIDOSIS 15457
12163 1                   SANDHOFF DISEASE//GM2 GANGLIOSIDOSIS//TAY SACHS DISEASE 927

Terms with highest relevance score


rank Term termType Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 SANDHOFF DISEASE authKW 2415762 10% 82% 89
2 GM2 GANGLIOSIDOSIS authKW 1985478 8% 84% 72
3 TAY SACHS DISEASE authKW 1665188 9% 62% 82
4 HEXOSAMINIDASE authKW 440040 4% 37% 36
5 GM2 GANGLIOSIDE authKW 370710 2% 49% 23
6 GANGLIOSIDOSIS authKW 360311 2% 58% 19
7 HEXA GENE authKW 296446 1% 100% 9
8 HEXOSAMINIDASE A authKW 292971 1% 68% 13
9 HEXB authKW 274484 1% 83% 10
10 GM1 GANGLIOSIDOSIS authKW 258848 3% 27% 29

Web of Science journal categories


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 Genetics & Heredity 4115 28% 0% 262
2 Clinical Neurology 1239 17% 0% 158
3 Biochemistry & Molecular Biology 782 27% 0% 251
4 Medicine, Research & Experimental 714 11% 0% 105
5 Neurosciences 433 15% 0% 137
6 Medical Laboratory Technology 396 4% 0% 34
7 Pathology 298 6% 0% 53
8 Pediatrics 183 6% 0% 54
9 Endocrinology & Metabolism 180 7% 0% 61
10 Veterinary Sciences 125 5% 0% 48

Address terms


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 SCOTT RITCHEY 45121 2% 10% 14
2 BIOCHIM MED MALAD METAB 43917 0% 67% 2
3 AAB BIOMED SCI MED DENT 32938 0% 100% 1
4 ADANA TEACHING MED PEDIAT CARDIOL UNIT 32938 0% 100% 1
5 ATLANTIC MENTAL RETARDAT 32938 0% 100% 1
6 BIOCHEM OR KINDERKLIN 32938 0% 100% 1
7 BIOINFORMAT UNITMOL BIOL 32938 0% 100% 1
8 BIOL GENET COUNSELING 32938 0% 100% 1
9 CHILD DEV REHABIOL 32938 0% 100% 1
10 CNRS COCHINU567UMR 8104 32938 0% 100% 1

Journals


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 ADVANCES IN GENETICS INCORPORATING MOLECULAR GENETIC MEDICINE 64727 2% 12% 17
2 JOURNAL OF INHERITED METABOLIC DISEASE 7885 4% 1% 33
3 AMERICAN JOURNAL OF HUMAN GENETICS 6848 4% 1% 41
4 MOLECULAR GENETICS AND METABOLISM 5078 2% 1% 22
5 HUMAN MUTATION 2661 2% 0% 18
6 BRAIN & DEVELOPMENT 2019 2% 0% 15
7 NEUROPEDIATRICS 1945 1% 1% 11
8 NEUROPADIATRIE 1732 0% 5% 1
9 GENETIC TESTING 1271 1% 1% 5
10 ACTA NEUROPATHOLOGICA 1248 2% 0% 15

Author Key Words


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class		 LCSH search Wikipedia search
1 SANDHOFF DISEASE 2415762 10% 82% 89 Search SANDHOFF+DISEASE Search SANDHOFF+DISEASE
2 GM2 GANGLIOSIDOSIS 1985478 8% 84% 72 Search GM2+GANGLIOSIDOSIS Search GM2+GANGLIOSIDOSIS
3 TAY SACHS DISEASE 1665188 9% 62% 82 Search TAY+SACHS+DISEASE Search TAY+SACHS+DISEASE
4 HEXOSAMINIDASE 440040 4% 37% 36 Search HEXOSAMINIDASE Search HEXOSAMINIDASE
5 GM2 GANGLIOSIDE 370710 2% 49% 23 Search GM2+GANGLIOSIDE Search GM2+GANGLIOSIDE
6 GANGLIOSIDOSIS 360311 2% 58% 19 Search GANGLIOSIDOSIS Search GANGLIOSIDOSIS
7 HEXA GENE 296446 1% 100% 9 Search HEXA+GENE Search HEXA+GENE
8 HEXOSAMINIDASE A 292971 1% 68% 13 Search HEXOSAMINIDASE+A Search HEXOSAMINIDASE+A
9 HEXB 274484 1% 83% 10 Search HEXB Search HEXB
10 GM1 GANGLIOSIDOSIS 258848 3% 27% 29 Search GM1+GANGLIOSIDOSIS Search GM1+GANGLIOSIDOSIS

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.


Rank Reference # ref. in
cl.		 Shr. of ref. in
cl.		 Citations
1 MAHURAN, DJ , (1999) BIOCHEMICAL CONSEQUENCES OF MUTATIONS CAUSING THE GM2 GANGLIOSIDOSES.BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. VOL. 1455. ISSUE 2-3. P. 105-138 139 71% 139
2 TRIGGS-RAINE, B , MAHURAN, DJ , GRAVEL, RA , (2001) NATURALLY OCCURRING MUTATIONS IN G(M2) GANGLIOSIDOSIS: A COMPENDIUM.TAY-SACHS DISEASE. VOL. 44. ISSUE . P. 199-224 109 92% 17
3 KAPLAN, F , (1998) TAY-SACHS DISEASE CARRIER SCREENING: A MODEL FOR PREVENTION OF GENETIC DISEASE.GENETIC TESTING. VOL. 2. ISSUE 4. P. 271 -292 115 87% 24
4 MAEGAWA, GHB , STOCKLEY, T , TROPAK, M , BANWELL, B , BLASER, S , KOK, F , GIUGLIANI, R , MAHURAN, D , CLARKE, JTR , (2006) THE NATURAL HISTORY OF JUVENILE OR SUBACUTE GM2 GANGLIOSIDOSIS: 21 NEW CASES AND LITERATURE REVIEW OF 134 PREVIOUSLY REPORTED.PEDIATRICS. VOL. 118. ISSUE 5. P. E1550-E1562 68 96% 39
5 REGIER, DS , PROIA, RL , D'AZZO, A , TIFFT, CJ , (2016) THE GM1 AND GM2 GANGLIOSIDOSES: NATURAL HISTORY AND PROGRESS TOWARD THERAPY.PEDIATRIC ENDOCRINOLOGY REVIEWS PER. VOL. 13. ISSUE . P. 663 -673 59 77% 0
6 MAHURAN, DJ , GRAVEL, RA , (2001) THE BETA-HEXOSAMINIDASE STORY IN TORONTO: FROM ENZYME STRUCTURE TO GENE MUTATION.TAY-SACHS DISEASE. VOL. 44. ISSUE . P. 145-163 54 90% 3
7 KOHYAMA, M , YABUKI, A , OCHIAI, K , NAKAMOTO, Y , UCHIDA, K , HASEGAWA, D , TAKAHASHI, K , KAWAGUCHI, H , TSUBOI, M , YAMATO, O , (2016) IN SITU DETECTION OF GM1 AND GM2 GANGLIOSIDES USING IMMUNOHISTOCHEMICAL AND IMMUNOFLUORESCENT TECHNIQUES FOR AUXILIARY DIAGNOSIS OF CANINE AND FELINE GANGLIOSIDOSES.BMC VETERINARY RESEARCH. VOL. 12. ISSUE . P. - 36 88% 0
8 MYEROWITZ, R , (1997) TAY-SACHS DISEASE-CAUSING MUTATIONS AND NEUTRAL POLYMORPHISMS IN THE HEX A GENE.HUMAN MUTATION. VOL. 9. ISSUE 3. P. 195-208 52 93% 45
9 HECHTMAN, P , KAPLAN, F , (1993) TAY-SACHS-DISEASE SCREENING AND DIAGNOSIS - EVOLVING TECHNOLOGIES.DNA AND CELL BIOLOGY. VOL. 12. ISSUE 8. P. 651-665 67 82% 8
10 SANDERS, DN , ZENG, R , WENGER, DA , JOHNSON, GS , JOHNSON, GC , DECKER, JE , KATZ, ML , PLATT, SR , O'BRIEN, DP , (2013) GM2 GANGLIOSIDOSIS ASSOCIATED WITH A HEXA MISSENSE MUTATION IN JAPANESE CHIN DOGS: A POTENTIAL MODEL FOR TAY SACHS DISEASE.MOLECULAR GENETICS AND METABOLISM. VOL. 108. ISSUE 1. P. 70-75 27 90% 6

Classes with closest relation at Level 1


Rank Class id link
1 17857 PROSAPOSIN//SPHINGOLIPID ACTIVATOR PROTEINS//SAPOSIN
2 21054 ALPHA MANNOSIDOSIS//BETA MANNOSIDOSIS//MANNOSIDOSIS
3 29415 LYSOSOMAL EXOGLYCOSIDASES//GEN SURG ENDOCRINOL 1//N ACETYL BETA HEXOSAMINIDASE
4 11351 GALACTOSIALIDOSIS//SIALIDASE//SIALIDOSIS
5 16795 KRABBE DISEASE//GLOBOID CELL LEUKODYSTROPHY//PSYCHOSINE
6 17498 CARRIER SCREENING//EXPANDED CARRIER SCREENING//CARRIER TESTING
7 11213 METACHROMATIC LEUKODYSTROPHY//ARYLSULFATASE A//MULTIPLE SULFATASE DEFICIENCY
8 11970 N ACETYL BETA D GLUCOSAMINIDASE//ENZYMURIA//URINARY ENZYMES
9 1959 GAUCHER DISEASE//GLUCOCEREBROSIDASE//GAUCHER CLIN
10 1052 MUCOPOLYSACCHARIDOSIS//MUCOPOLYSACCHARIDOSES//HUNTER SYNDROME

Go to start page