Class information for:
Level 2: GAUCHER DISEASE//LYSOSOMAL STORAGE DISEASE//MUCOPOLYSACCHARIDOSIS

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
491 15457 32.8 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
1052 1                   MUCOPOLYSACCHARIDOSIS//MUCOPOLYSACCHARIDOSES//HUNTER SYNDROME 2880
1959 1                   GAUCHER DISEASE//GLUCOCEREBROSIDASE//GAUCHER CLIN 2406
6069 1                   NIEMANN PICK DISEASE TYPE C//NIEMANN PICK TYPE C//NIEMANN PICK DISEASE 1536
6251 1                   BATTEN DISEASE//NEURONAL CEROID LIPOFUSCINOSIS//NEURONAL CEROID LIPOFUSCINOSES 1508
11213 1                   METACHROMATIC LEUKODYSTROPHY//ARYLSULFATASE A//MULTIPLE SULFATASE DEFICIENCY 999
11351 1                   GALACTOSIALIDOSIS//SIALIDASE//SIALIDOSIS 988
11970 1                   N ACETYL BETA D GLUCOSAMINIDASE//ENZYMURIA//URINARY ENZYMES 941
12163 1                   SANDHOFF DISEASE//GM2 GANGLIOSIDOSIS//TAY SACHS DISEASE 927
12781 1                   ALEXANDER DISEASE//LEUKODYSTROPHY//ROSENTHAL FIBERS 881
16795 1                   KRABBE DISEASE//GLOBOID CELL LEUKODYSTROPHY//PSYCHOSINE 635
17857 1                   PROSAPOSIN//SPHINGOLIPID ACTIVATOR PROTEINS//SAPOSIN 579
21054 1                   ALPHA MANNOSIDOSIS//BETA MANNOSIDOSIS//MANNOSIDOSIS 435
24263 1                   FUCOSIDOSIS//ALPHA L FUCOSIDASE//CANINE FUCOSIDOSIS 318
27062 1                   ASPARTYLGLUCOSAMINURIA//GLYCOSYLASPARAGINASE//ASPARTYLGLUCOSAMINIDASE 238
29415 1                   LYSOSOMAL EXOGLYCOSIDASES//GEN SURG ENDOCRINOL 1//N ACETYL BETA HEXOSAMINIDASE 186

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 GAUCHER DISEASE authKW 1480944 6% 84% 889
2 LYSOSOMAL STORAGE DISEASE authKW 860111 4% 67% 648
3 MUCOPOLYSACCHARIDOSIS authKW 569750 2% 85% 339
4 ENZYME REPLACEMENT THERAPY authKW 460951 3% 51% 461
5 BATTEN DISEASE authKW 450390 2% 93% 245
6 NEURONAL CEROID LIPOFUSCINOSIS authKW 414733 2% 89% 236
7 GLUCOCEREBROSIDASE authKW 405464 2% 85% 242
8 METACHROMATIC LEUKODYSTROPHY authKW 380326 1% 91% 211
9 LYSOSOMAL STORAGE DISORDER authKW 376750 2% 63% 305
10 KRABBE DISEASE authKW 334050 1% 92% 184

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 39892 22% 1% 3390
2 Medicine, Research & Experimental 14375 12% 0% 1904
3 Clinical Neurology 12334 14% 0% 2097
4 Biochemistry & Molecular Biology 9717 24% 0% 3730
5 Medical Laboratory Technology 7983 4% 1% 619
6 Pediatrics 7779 9% 0% 1334
7 Endocrinology & Metabolism 4935 8% 0% 1244
8 Neurosciences 3544 11% 0% 1739
9 Pathology 3375 5% 0% 749
10 Biophysics 1570 5% 0% 736

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 233087 1% 78% 151
2 GAUCHER CLIN 206458 1% 80% 131
3 SECT MOL NEUROGENET 71946 0% 60% 61
4 FDN GILLET MERIEUX 66335 0% 82% 41
5 WILLINK BIOCHEM GENET UNIT 62482 0% 41% 77
6 PEDIAT STORAGE DISORDERS 57550 0% 83% 35
7 DEV METAB NEUROL BRANCH 54229 1% 35% 78
8 MED GENET SERV 43097 1% 21% 103
9 REG COORDINATOR RARE DIS 36265 0% 74% 25
10 AMSTERDAM LYSOSOME SPHINX 35990 0% 79% 23

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 152011 3% 16% 491
2 JOURNAL OF INHERITED METABOLIC DISEASE 129437 4% 12% 546
3 BLOOD CELLS MOLECULES AND DISEASES 18011 1% 7% 128
4 CLINICA CHIMICA ACTA 17290 2% 3% 315
5 NEUROPEDIATRICS 16983 1% 7% 133
6 ORPHANET JOURNAL OF RARE DISEASES 16552 1% 9% 97
7 HUMAN MUTATION 14428 1% 4% 172
8 ADVANCES IN GENETICS INCORPORATING MOLECULAR GENETIC MEDICINE 11244 0% 20% 29
9 ENZYME 10604 0% 8% 64
10 HUMAN MOLECULAR GENETICS 9873 1% 2% 225

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 GAUCHER DISEASE 1480944 6% 84% 889 Search GAUCHER+DISEASE Search GAUCHER+DISEASE
2 LYSOSOMAL STORAGE DISEASE 860111 4% 67% 648 Search LYSOSOMAL+STORAGE+DISEASE Search LYSOSOMAL+STORAGE+DISEASE
3 MUCOPOLYSACCHARIDOSIS 569750 2% 85% 339 Search MUCOPOLYSACCHARIDOSIS Search MUCOPOLYSACCHARIDOSIS
4 ENZYME REPLACEMENT THERAPY 460951 3% 51% 461 Search ENZYME+REPLACEMENT+THERAPY Search ENZYME+REPLACEMENT+THERAPY
5 BATTEN DISEASE 450390 2% 93% 245 Search BATTEN+DISEASE Search BATTEN+DISEASE
6 NEURONAL CEROID LIPOFUSCINOSIS 414733 2% 89% 236 Search NEURONAL+CEROID+LIPOFUSCINOSIS Search NEURONAL+CEROID+LIPOFUSCINOSIS
7 GLUCOCEREBROSIDASE 405464 2% 85% 242 Search GLUCOCEREBROSIDASE Search GLUCOCEREBROSIDASE
8 METACHROMATIC LEUKODYSTROPHY 380326 1% 91% 211 Search METACHROMATIC+LEUKODYSTROPHY Search METACHROMATIC+LEUKODYSTROPHY
9 LYSOSOMAL STORAGE DISORDER 376750 2% 63% 305 Search LYSOSOMAL+STORAGE+DISORDER Search LYSOSOMAL+STORAGE+DISORDER
10 KRABBE DISEASE 334050 1% 92% 184 Search KRABBE+DISEASE Search KRABBE+DISEASE

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 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
2 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
3 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
4 VANIER, MT , (2010) NIEMANN-PICK DISEASE TYPE C.ORPHANET JOURNAL OF RARE DISEASES. VOL. 5. ISSUE . P. - 116 98% 233
5 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
6 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
7 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
8 GRAZIANO, ACE , CARDILE, V , (2015) HISTORY, GENETIC, AND RECENT ADVANCES ON KRABBE DISEASE.GENE. VOL. 555. ISSUE 1. P. 2 -13 116 97% 13
9 SHACKA, JJ , (2012) MOUSE MODELS OF NEURONAL CEROID LIPOFUSCINOSES: USEFUL PRE-CLINICAL TOOLS TO DELINEATE DISEASE PATHOPHYSIOLOGY AND VALIDATE THERAPEUTICS.BRAIN RESEARCH BULLETIN. VOL. 88. ISSUE 1. P. 43-57 146 88% 22
10 GIESELMANN, V , (1995) LYSOSOMAL STORAGE DISEASES.BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. VOL. 1270. ISSUE 2-3. P. 103-136 249 81% 103

Classes with closest relation at Level 2


Rank Class id link
1 3320 FABRY DISEASE//ALPHA GALACTOSIDASE A//ANDERSON FABRY DISEASE
2 3898 CYSTINOSIS//NEPHROPATHIC CYSTINOSIS//SALLA DISEASE
3 1744 CATHEPSIN//CATHEPSIN K//CATHEPSIN B
4 1273 GANGLIOSIDES//SIALIC ACID//GLYCOSPHINGOLIPIDS
5 1124 SPHINGOSINE 1 PHOSPHATE//CERAMIDE//SPHINGOLIPIDS
6 1662 POMPE DISEASE//GLYCOGEN STORAGE DISEASE//GLYCOGEN STORAGE DISEASE TYPE II
7 1128 AUTOPHAGY//BECLIN 1//LC3
8 2144 JOURNAL OF INHERITED METABOLIC DISEASE//NEWBORN SCREENING//METHYLMALONIC ACIDEMIA
9 3289 GENTAMICIN//NEPHROTOXICITY//GENTAMICIN INDUCED NEPHROTOXICITY
10 3232 GRASS SICKNESS//EQUINE GRASS SICKNESS//DEGENERATIVE MYELOPATHY

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