Class information for:
Level 2: FABRY DISEASE//GAUCHER DISEASE//MUCOPOLYSACCHARIDOSES

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
330 17366 32.8 69%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 3)


ID, lev.
above		 Publications Label for level above
502 19766 FABRY DISEASE//GAUCHER DISEASE//MUCOPOLYSACCHARIDOSES

Classes in level below (level 1)


ID, lev. below Publications Label for level below
1157 2717 MUCOPOLYSACCHARIDOSES//HUNTER SYNDROME//MAROTEAUX LAMY SYNDROME
2184 2255 GAUCHER DISEASE//GLUCOCEREBROSIDASE//GAUCHERS DISEASE
4517 1698 FABRY DISEASE//ALPHA GALACTOSIDASE A//FABRYS DISEASE
6198 1452 BATTEN DISEASE//NEURONAL CEROID LIPOFUSCINOSIS//NEURONAL CEROID LIPOFUSCINOSES
6541 1403 NIEMANN PICK DISEASE TYPE C//NIEMANN PICK TYPE C//NIEMANN PICK DISEASE
7217 1316 I CELL DISEASE//MANNOSE 6 PHOSPHATE//MUCOLIPIDOSIS TYPE III
7990 1229 GALACTOSIALIDOSIS//GM1 GANGLIOSIDOSIS//SIALIDASE
10710 974 GM2 GANGLIOSIDOSIS//SANDHOFF DISEASE//TAY SACHS DISEASE
11149 938 METACHROMATIC LEUKODYSTROPHY//ARYLSULFATASE A//MULTIPLE SULFATASE DEFICIENCY
12686 826 ALEXANDER DISEASE//LEUKODYSTROPHY//VANISHING WHITE MATTER DISEASE
16714 575 GLOBOID CELL LEUKODYSTROPHY//KRABBE DISEASE//PSYCHOSINE
16771 572 PROSAPOSIN//SPHINGOLIPID ACTIVATOR PROTEIN//SAPOSIN B
21212 368 DANON DISEASE//LAMP 2 DEFICIENCY//LAMP 2
22967 306 FUCOSIDOSIS//ALPHA L FUCOSIDASE//FUCOSE DEHYDROGENASE
24427 261 FARBER DISEASE//ASAH1//FARBER LIPOGRANULOMATOSIS
25247 238 ASPARTYLGLUCOSAMINURIA//GLYCOSYLASPARAGINASE//ASPARTYLGLUCOSAMINIDASE
25255 238 MUCOLIPIDOSIS TYPE IV//MUCOLIPIN//MUCOLIPIDOSIS IV

Terms with highest relevance score


Rank Term Type of term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 FABRY DISEASE Author keyword 1377 87% 4% 681
2 GAUCHER DISEASE Author keyword 1127 82% 4% 657
3 MUCOPOLYSACCHARIDOSES Author keyword 826 84% 3% 446
4 ENZYME REPLACEMENT THERAPY Author keyword 773 73% 3% 591
5 LYSOSOMAL STORAGE DISEASE Author keyword 696 76% 3% 493
6 BATTEN DISEASE Author keyword 573 93% 1% 218
7 NEURONAL CEROID LIPOFUSCINOSIS Author keyword 541 91% 1% 224
8 METACHROMATIC LEUKODYSTROPHY Author keyword 437 89% 1% 197
9 GLUCOCEREBROSIDASE Author keyword 398 84% 1% 220
10 ALPHA GALACTOSIDASE A Author keyword 373 89% 1% 167

Web of Science journal categories

Author Key Words


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class		 LCSH search Wikipedia search
1 FABRY DISEASE 1377 87% 4% 681 Search FABRY+DISEASE Search FABRY+DISEASE
2 GAUCHER DISEASE 1127 82% 4% 657 Search GAUCHER+DISEASE Search GAUCHER+DISEASE
3 MUCOPOLYSACCHARIDOSES 826 84% 3% 446 Search MUCOPOLYSACCHARIDOSES Search MUCOPOLYSACCHARIDOSES
4 ENZYME REPLACEMENT THERAPY 773 73% 3% 591 Search ENZYME+REPLACEMENT+THERAPY Search ENZYME+REPLACEMENT+THERAPY
5 LYSOSOMAL STORAGE DISEASE 696 76% 3% 493 Search LYSOSOMAL+STORAGE+DISEASE Search LYSOSOMAL+STORAGE+DISEASE
6 BATTEN DISEASE 573 93% 1% 218 Search BATTEN+DISEASE Search BATTEN+DISEASE
7 NEURONAL CEROID LIPOFUSCINOSIS 541 91% 1% 224 Search NEURONAL+CEROID+LIPOFUSCINOSIS Search NEURONAL+CEROID+LIPOFUSCINOSIS
8 METACHROMATIC LEUKODYSTROPHY 437 89% 1% 197 Search METACHROMATIC+LEUKODYSTROPHY Search METACHROMATIC+LEUKODYSTROPHY
9 GLUCOCEREBROSIDASE 398 84% 1% 220 Search GLUCOCEREBROSIDASE Search GLUCOCEREBROSIDASE
10 ALPHA GALACTOSIDASE A 373 89% 1% 167 Search ALPHA+GALACTOSIDASE+A Search ALPHA+GALACTOSIDASE+A

Key Words Plus


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of publ.
in class
1 ENZYME REPLACEMENT THERAPY 1745 70% 8% 1451
2 BATTEN DISEASE 605 84% 2% 332
3 MAROTEAUX LAMY SYNDROME 472 92% 1% 186
4 MACROPHAGE TARGETED GLUCOCEREBROSIDASE 459 95% 1% 153
5 ACID BETA GLUCOSIDASE 431 82% 1% 251
6 OUTCOME SURVEY 395 89% 1% 181
7 HURLER SYNDROME 389 85% 1% 203
8 GLUCOCEREBROSIDASE 362 72% 2% 281
9 GAUCHER DISEASE 348 51% 3% 491
10 LYSOSOMAL STORAGE DISORDERS 337 62% 2% 350

Journals


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 JOURNAL OF INHERITED METABOLIC DISEASE 98 14% 4% 633
2 MOLECULAR GENETICS AND METABOLISM 96 17% 3% 507
3 ORPHANET JOURNAL OF RARE DISEASES 10 10% 1% 90

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Niemann-Pick disease type C 2010 154 118 98%
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance 2014 19 64 94%
Formylglycine, a Post-Translationally Generated Residue with Unique Catalytic Capabilities and Biotechnology Applications 2015 5 89 49%
Lysosomal storage disease 3 - Fabry's disease 2008 185 91 98%
STRUCTURE AND FUNCTION OF THE MANNOSE 6-PHOSPHATE INSULIN-LIKE GROWTH FACTOR-II RECEPTORS 1992 806 171 71%
Mammalian sialidases: Physiological and pathological roles in cellular functions 2012 56 131 83%
THE BIOGENESIS OF LYSOSOMES 1989 1256 175 67%
The role of TRPMLs in endolysosomal trafficking and function 2015 2 127 84%
Lysosomal storage disorders: The cellular impact of lysosomal dysfunction 2012 82 121 58%
Early initiation of enzyme replacement therapy for the mucopolysaccharidoses 2014 13 76 87%

Address terms


Rank Address term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 DEV METAB NEUROL BRANCH 247 77% 1.0% 168
2 GAUCHER CLIN 246 85% 0.7% 130
3 LYSOSOMAL DIS UNIT 239 80% 0.8% 147
4 FDN GILLET MERIEUX 77 84% 0.2% 42
5 AMSTERDAM LYSOSOME SPHINX 73 96% 0.1% 23
6 LYSOSOMAL STORAGE DIS 72 100% 0.1% 23
7 PEDIAT STORAGE DISORDERS 65 85% 0.2% 34
8 LYSOSOMAL STORAGE DISORDERS UNIT 64 88% 0.2% 30
9 SECT MOL NEUROGENET 49 59% 0.3% 55
10 WILLINK BIOCHEM GENET UNIT 40 42% 0.4% 73

Related classes at same level (level 2)


Rank Relatedness score Related classes
1 0.0000010305 CERAMIDE//SPHINGOLIPIDS//SPHINGOLIPID
2 0.0000008654 POMPE DISEASE//GLYCOGEN STORAGE DISEASE TYPE II//GLYCOGEN STORAGE DISEASE
3 0.0000008284 CYSTINOSIS//PANTOTHENATE KINASE//PKAN
4 0.0000006428 CONGENITAL DISORDERS OF GLYCOSYLATION//GLYCOPROTEOMICS//OLIGOSACCHARYLTRANSFERASE
5 0.0000005702 GANGLIOSIDES//SIALYLTRANSFERASE//SIALIC ACID
6 0.0000004748 CATHEPSIN B//CATHEPSIN K//CATHEPSIN D
7 0.0000004700 CLATHRIN//COPII//TRAFFIC
8 0.0000004099 AUTOPHAGY//BECLIN 1//LC3
9 0.0000003164 CANAVAN DISEASE//PROSTATE SPECIFIC MEMBRANE ANTIGEN//PSMA
10 0.0000003135 ADRENOLEUKODYSTROPHY//FATTY ACID BINDING PROTEIN//X LINKED ADRENOLEUKODYSTROPHY