Class information for:
Level 3: FABRY DISEASE//GAUCHER DISEASE//LYSOSOMAL STORAGE DISEASE

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
551 18099 32.3 68%


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
3320 2             FABRY DISEASE//ALPHA GALACTOSIDASE A//ANDERSON FABRY DISEASE 1809
3898 2             CYSTINOSIS//NEPHROPATHIC CYSTINOSIS//SALLA DISEASE 833

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 FABRY DISEASE authKW 1342206 5% 90% 884
2 GAUCHER DISEASE authKW 1278778 5% 85% 894
3 LYSOSOMAL STORAGE DISEASE authKW 924518 4% 75% 727
4 ENZYME REPLACEMENT THERAPY authKW 872081 4% 75% 686
5 MUCOPOLYSACCHARIDOSIS authKW 495136 2% 86% 342
6 LYSOSOMAL STORAGE DISORDER authKW 458289 2% 75% 364
7 BATTEN DISEASE authKW 387721 1% 94% 246
8 NEURONAL CEROID LIPOFUSCINOSIS authKW 354124 1% 89% 236
9 GLUCOCEREBROSIDASE authKW 346206 1% 85% 242
10 METACHROMATIC LEUKODYSTROPHY authKW 324746 1% 91% 211

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 45314 22% 1% 3914
2 Medicine, Research & Experimental 17301 12% 1% 2257
3 Clinical Neurology 12658 13% 0% 2319
4 Pediatrics 9874 9% 0% 1618
5 Biochemistry & Molecular Biology 9249 22% 0% 4036
6 Medical Laboratory Technology 8227 4% 1% 683
7 Endocrinology & Metabolism 5888 8% 0% 1468
8 Pathology 3465 5% 0% 830
9 Neurosciences 3229 10% 0% 1860
10 Biophysics 1552 4% 0% 810

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 LYSOSOMAL DIS UNIT 209710 1% 80% 155
2 GAUCHER CLIN 195640 1% 84% 138
3 DEV METAB NEUROL BRANCH 176076 1% 69% 152
4 FDN GILLET MERIEUX 62305 0% 86% 43
5 SECT MOL NEUROGENET 61426 0% 60% 61
6 WILLINK BIOCHEM GENET UNIT 56150 0% 42% 79
7 PEDIAT STORAGE DISORDERS 49139 0% 83% 35
8 LYSOSOMAL STORAGE DISORDERS UNIT 48691 0% 85% 34
9 MED GENET SERV 46674 1% 24% 116
10 AMSTERDAM LYSOSOME SPHINX 45555 0% 97% 28

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 MOLECULAR GENETICS AND METABOLISM 176182 3% 18% 572
2 JOURNAL OF INHERITED METABOLIC DISEASE 161565 4% 15% 660
3 ORPHANET JOURNAL OF RARE DISEASES 22380 1% 11% 122
4 CLINICA CHIMICA ACTA 17357 2% 3% 342
5 BLOOD CELLS MOLECULES AND DISEASES 15587 1% 7% 129
6 HUMAN MUTATION 15336 1% 5% 192
7 NEUROPEDIATRICS 15132 1% 7% 136
8 CLINICAL GENETICS 10543 1% 4% 181
9 ENZYME 9911 0% 9% 67
10 ADVANCES IN GENETICS INCORPORATING MOLECULAR GENETIC MEDICINE 9594 0% 20% 29

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 FABRY DISEASE 1342206 5% 90% 884 Search FABRY+DISEASE Search FABRY+DISEASE
2 GAUCHER DISEASE 1278778 5% 85% 894 Search GAUCHER+DISEASE Search GAUCHER+DISEASE
3 LYSOSOMAL STORAGE DISEASE 924518 4% 75% 727 Search LYSOSOMAL+STORAGE+DISEASE Search LYSOSOMAL+STORAGE+DISEASE
4 ENZYME REPLACEMENT THERAPY 872081 4% 75% 686 Search ENZYME+REPLACEMENT+THERAPY Search ENZYME+REPLACEMENT+THERAPY
5 MUCOPOLYSACCHARIDOSIS 495136 2% 86% 342 Search MUCOPOLYSACCHARIDOSIS Search MUCOPOLYSACCHARIDOSIS
6 LYSOSOMAL STORAGE DISORDER 458289 2% 75% 364 Search LYSOSOMAL+STORAGE+DISORDER Search LYSOSOMAL+STORAGE+DISORDER
7 BATTEN DISEASE 387721 1% 94% 246 Search BATTEN+DISEASE Search BATTEN+DISEASE
8 NEURONAL CEROID LIPOFUSCINOSIS 354124 1% 89% 236 Search NEURONAL+CEROID+LIPOFUSCINOSIS Search NEURONAL+CEROID+LIPOFUSCINOSIS
9 GLUCOCEREBROSIDASE 346206 1% 85% 242 Search GLUCOCEREBROSIDASE Search GLUCOCEREBROSIDASE
10 METACHROMATIC LEUKODYSTROPHY 324746 1% 91% 211 Search METACHROMATIC+LEUKODYSTROPHY Search METACHROMATIC+LEUKODYSTROPHY

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 GERMAIN, DP , (2010) FABRY DISEASE.ORPHANET JOURNAL OF RARE DISEASES. VOL. 5. ISSUE . P. - 325 96% 135
2 EL-ABASSI, R , SINGHAL, D , ENGLAND, JD , (2014) FABRY'S DISEASE.JOURNAL OF THE NEUROLOGICAL SCIENCES. VOL. 344. ISSUE 1-2. P. 5 -19 202 95% 15
3 BOND, M , HOLTHAUS, SMK , TAMMEN, I , TEAR, G , RUSSELL, C , (2013) USE OF MODEL ORGANISMS FOR THE STUDY OF NEURONAL CEROID LIPOFUSCINOSIS.BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. VOL. 1832. ISSUE 11. P. 1842-1865 228 80% 20
4 JALANKO, A , BRAULKE, T , (2009) NEURONAL CEROID LIPOFUSCINOSES.BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH. VOL. 1793. ISSUE 4. P. 697 -709 191 87% 144
5 WANG, RY , BODAMER, OA , WATSON, MS , WILCOX, WR , (2011) LYSOSOMAL STORAGE DISEASES: DIAGNOSTIC CONFIRMATION AND MANAGEMENT OF PRESYMPTOMATIC INDIVIDUALS.GENETICS IN MEDICINE. VOL. 13. ISSUE 5. P. 457 -484 213 84% 47
6 KOUSI, M , LEHESJOKI, AE , MOLE, SE , (2012) UPDATE OF THE MUTATION SPECTRUM AND CLINICAL CORRELATIONS OF OVER 360 MUTATIONS IN EIGHT GENES THAT UNDERLIE THE NEURONAL CEROID LIPOFUSCINOSES.HUMAN MUTATION. VOL. 33. ISSUE 1. P. 42-63 154 95% 89
7 VANIER, MT , (2010) NIEMANN-PICK DISEASE TYPE C.ORPHANET JOURNAL OF RARE DISEASES. VOL. 5. ISSUE . P. - 116 98% 233
8 HRUSKA, KS , LAMARCA, ME , SCOTT, CR , SIDRANSKY, E , (2008) GAUCHER DISEASE: MUTATION AND POLYMORPHISM SPECTRUM IN THE GLUCOCEREBROSIDASE GENE (GBA).HUMAN MUTATION. VOL. 29. ISSUE 5. P. 567-583 147 95% 160
9 VANCE, JE , KARTEN, B , (2014) NIEMANN-PICK C DISEASE AND MOBILIZATION OF LYSOSOMAL CHOLESTEROL BY CYCLODEXTRIN.JOURNAL OF LIPID RESEARCH. VOL. 55. ISSUE 8. P. 1609 -1621 146 81% 37
10 KOLLMANN, K , UUSI-RAUVA, K , SCIFO, E , TYYNELA, J , JALANKO, A , BRAULKE, T , (2013) CELL BIOLOGY AND FUNCTION OF NEURONAL CEROID LIPOFUSCINOSIS-RELATED PROTEINS.BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. VOL. 1832. ISSUE 11. P. 1866 -1881 203 64% 37

Classes with closest relation at Level 3


Rank Class id link
1 103 O GLCNACYLATION//O GLCNAC TRANSFERASE//O GLCNACASE
2 427 JOURNAL OF THE INSTITUTE OF BREWING//KERATINASE//CYSTATIN
3 584 POMPE DISEASE//PIN1//CYCLOPHILIN
4 429 SPHINGOSINE 1 PHOSPHATE//CERAMIDE//SPHINGOLIPIDS
5 389 PEROXISOME//CARNITINE//JOURNAL OF INHERITED METABOLIC DISEASE
6 351 GAP JUNCTION//CONNEXIN//OLIGODENDROCYTE
7 603 HUNTINGTONS DISEASE//SPINOCEREBELLAR ATAXIA//POLYGLUTAMINE
8 419 ADENOVIRUS//MERKEL CELL CARCINOMA//GENE THERAPY
9 262 AUTOPHAGY//RESVERATROL//HISTONE DEACETYLASE INHIBITOR
10 298 UROLOGY & NEPHROLOGY//PROTEINURIA//NEPHROTIC SYNDROME

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