Class information for:
Level 3: FABRY DISEASE//GAUCHER DISEASE//MUCOPOLYSACCHARIDOSES

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
502 19766 32.4 68%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 4)


ID, lev.
above		 Publications Label for level above
0 3633673 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//MED

Classes in level below (level 2)


ID, lev.
below		 Publications Label for level below
330 17366 FABRY DISEASE//GAUCHER DISEASE//MUCOPOLYSACCHARIDOSES
2859 2400 CYSTINOSIS//PANTOTHENATE KINASE//PKAN

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% 3% 681
2 GAUCHER DISEASE Author keyword 1127 82% 3% 657
3 MUCOPOLYSACCHARIDOSES Author keyword 833 84% 2% 447
4 ENZYME REPLACEMENT THERAPY Author keyword 773 73% 3% 591
5 LYSOSOMAL STORAGE DISEASE Author keyword 738 77% 3% 502
6 BATTEN DISEASE Author keyword 588 93% 1% 219
7 NEURONAL CEROID LIPOFUSCINOSIS Author keyword 541 91% 1% 224
8 METACHROMATIC LEUKODYSTROPHY Author keyword 437 89% 1% 197
9 GLUCOCEREBROSIDASE Author keyword 413 84% 1% 222
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% 3% 681 Search FABRY+DISEASE Search FABRY+DISEASE
2 GAUCHER DISEASE 1127 82% 3% 657 Search GAUCHER+DISEASE Search GAUCHER+DISEASE
3 MUCOPOLYSACCHARIDOSES 833 84% 2% 447 Search MUCOPOLYSACCHARIDOSES Search MUCOPOLYSACCHARIDOSES
4 ENZYME REPLACEMENT THERAPY 773 73% 3% 591 Search ENZYME+REPLACEMENT+THERAPY Search ENZYME+REPLACEMENT+THERAPY
5 LYSOSOMAL STORAGE DISEASE 738 77% 3% 502 Search LYSOSOMAL+STORAGE+DISEASE Search LYSOSOMAL+STORAGE+DISEASE
6 BATTEN DISEASE 588 93% 1% 219 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 413 84% 1% 222 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% 7% 1451
2 BATTEN DISEASE 627 85% 2% 335
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 366 73% 1% 282
9 GAUCHER DISEASE 353 51% 2% 494
10 NEURONAL CEROID LIPOFUSCINOSIS 349 57% 2% 409

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 109 15% 3% 666
2 MOLECULAR GENETICS AND METABOLISM 106 18% 3% 531
3 ORPHANET JOURNAL OF RARE DISEASES 10 11% 0% 93

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%
THE BIOGENESIS OF LYSOSOMES 1989 1256 175 70%
The role of TRPMLs in endolysosomal trafficking and function 2015 2 127 84%
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome 2015 2 26 81%
Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases 2010 97 57 88%
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% 0.8% 168
2 GAUCHER CLIN 246 85% 0.7% 130
3 LYSOSOMAL DIS UNIT 239 80% 0.7% 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 52 60% 0.3% 56
10 WILLINK BIOCHEM GENET UNIT 40 42% 0.4% 73

Related classes at same level (level 3)


Rank Relatedness score Related classes
1 0.0000002813 POMPE DISEASE//PROTEIN KINASE CK2//GLYCOGEN STORAGE DISEASE TYPE II
2 0.0000002751 CARBOHYDRATE RESEARCH//LECTIN//GLYCOBIOLOGY
3 0.0000002050 VITILIGO//TYROSINASE//MELANOGENESIS
4 0.0000002017 PEROXISOME//ADRENOLEUKODYSTROPHY//PEROXISOMES
5 0.0000001801 SNAKE VENOM//SPHINGOSINE 1 PHOSPHATE//CERAMIDE
6 0.0000001330 HUNTINGTONS DISEASE//POLYGLUTAMINE//HUNTINGTIN
7 0.0000001275 HEPATIC ENCEPHALOPATHY//KETOGENIC DIET//CARNITINE
8 0.0000001188 DYSTONIA//ESSENTIAL TREMOR//CERVICAL DYSTONIA
9 0.0000001151 ALKALINE PROTEASES//MATRIX METALLOPROTEINASES//KERATINASE
10 0.0000001131 PARKINSONS DISEASE//ALPHA SYNUCLEIN//MOVEMENT DISORDERS