Class information for:
Level 1: LESCH NYHAN SYNDROME//LESCH NYHAN DISEASE//LESCH NYHAN

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
15139 729 30.4 57%


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
236 3       ADENOSINE//NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS//ADENOSINE RECEPTORS 48331
1752 2             LESCH NYHAN SYNDROME//AMP DEAMINASE//LESCH NYHAN DISEASE 6485
15139 1                   LESCH NYHAN SYNDROME//LESCH NYHAN DISEASE//LESCH NYHAN 729

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 LESCH NYHAN SYNDROME authKW 3734098 14% 87% 103
2 LESCH NYHAN DISEASE authKW 1856670 7% 85% 52
3 LESCH NYHAN authKW 738850 3% 84% 21
4 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE authKW 401733 4% 36% 27
5 HPRT authKW 401679 7% 18% 54
6 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY authKW 376968 1% 100% 9
7 MED BIOCHEM GENET METAB address 339269 1% 90% 9
8 KELLEY SEEGMILLER SYNDROME authKW 335082 1% 100% 8
9 HPRT DEFICIENCY authKW 251312 1% 100% 6
10 LESCH NYHAN VARIANT authKW 209426 1% 100% 5

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 2147 23% 0% 170
2 Medicine, Research & Experimental 1215 16% 0% 117
3 Neurosciences 549 18% 0% 131
4 Endocrinology & Metabolism 539 12% 0% 84
5 Pediatrics 424 9% 0% 67
6 Biochemistry & Molecular Biology 375 22% 0% 163
7 Clinical Neurology 214 9% 0% 65
8 Behavioral Sciences 127 3% 0% 25
9 Urology & Nephrology 89 4% 0% 29
10 Developmental Biology 79 2% 0% 18

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 MED BIOCHEM GENET METAB 339269 1% 90% 9
2 METAB VASC UNIT 157869 1% 54% 7
3 PURINE NEUROSCI 130888 1% 63% 5
4 MITOCHONDRIAL METAB DIS 77093 1% 20% 9
5 ABT ALLGEMEINE PADIATR KLIN 41885 0% 100% 1
6 BIOCHIM METABOL PROTE 41885 0% 100% 1
7 BIOQUIM BIOL MOL NEUROCIENCIES 41885 0% 100% 1
8 CATTEDRA REUMATOLCHAIR RHEUMATOL 41885 0% 100% 1
9 CEMECOCATEDRA CLIN PEDIAT 41885 0% 100% 1
10 CIENCIAS BASICAS SAUDECIEBAS 41885 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 NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS 18159 6% 1% 45
2 JOURNAL OF INHERITED METABOLIC DISEASE 13330 5% 1% 38
3 MOLECULAR GENETICS AND METABOLISM 4324 2% 1% 18
4 ENZYME 1988 1% 1% 6
5 HUMAN GENETICS 1871 3% 0% 19
6 DEVELOPMENTAL NEUROSCIENCE 1710 1% 1% 8
7 METABOLIC BRAIN DISEASE 1435 1% 0% 7
8 ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY 1192 3% 0% 22
9 SOMATIC CELL AND MOLECULAR GENETICS 1147 1% 1% 5
10 JOURNAL OF DENTISTRY FOR CHILDREN 1108 1% 0% 6

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 LESCH NYHAN SYNDROME 3734098 14% 87% 103 Search LESCH+NYHAN+SYNDROME Search LESCH+NYHAN+SYNDROME
2 LESCH NYHAN DISEASE 1856670 7% 85% 52 Search LESCH+NYHAN+DISEASE Search LESCH+NYHAN+DISEASE
3 LESCH NYHAN 738850 3% 84% 21 Search LESCH+NYHAN Search LESCH+NYHAN
4 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 401733 4% 36% 27 Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE
5 HPRT 401679 7% 18% 54 Search HPRT Search HPRT
6 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY 376968 1% 100% 9 Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE+DEFICIENCY Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE+DEFICIENCY
7 KELLEY SEEGMILLER SYNDROME 335082 1% 100% 8 Search KELLEY+SEEGMILLER+SYNDROME Search KELLEY+SEEGMILLER+SYNDROME
8 HPRT DEFICIENCY 251312 1% 100% 6 Search HPRT+DEFICIENCY Search HPRT+DEFICIENCY
9 LESCH NYHAN VARIANT 209426 1% 100% 5 Search LESCH+NYHAN+VARIANT Search LESCH+NYHAN+VARIANT
10 HYPOXANTHINE GUANINE 188481 1% 75% 6 Search HYPOXANTHINE+GUANINE Search HYPOXANTHINE+GUANINE

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 FU, R , CEBALLOS-PICOT, I , TORRES, RJ , LAROVERE, LE , YAMADA, Y , NGUYEN, KV , HEGDE, M , VISSER, JE , SCHRETLEN, DJ , NYHAN, WL , ET AL (2014) GENOTYPE-PHENOTYPE CORRELATIONS IN NEUROGENETICS: LESCH-NYHAN DISEASE AS A MODEL DISORDER.BRAIN. VOL. 137. ISSUE . P. 1282 -1303 113 92% 12
2 TORRES, RJ , PUIG, JG , (2007) HYPOXANTHINE-GUANINE PHOSOPHORIBOSYLTRANSFERASE (HPRT) DEFICIENCY: LESCH-NYHAN SYNDROME.ORPHANET JOURNAL OF RARE DISEASES. VOL. 2. ISSUE . P. - 61 97% 53
3 JINNAH, HA , CEBALLOS-PICOT, I , TORRES, RJ , VISSER, JE , SCHRETLEN, DJ , VERDU, A , LAROVERE, LE , CHEN, CJ , COSSU, A , WU, CH , ET AL (2010) ATTENUATED VARIANTS OF LESCH-NYHAN DISEASE.BRAIN. VOL. 133. ISSUE . P. 671 -689 55 93% 39
4 TORRES, RJ , PUIG, JG , (2010) LESCH-NYHAN SYNDROME.DRUGS OF THE FUTURE. VOL. 35. ISSUE 5. P. 421-427 60 86% 1
5 JINNAH, HA , DE GREGORIO, L , HARRIS, JC , NYHAN, WL , O'NEILL, JP , (2000) THE SPECTRUM OF INHERITED MUTATIONS CAUSING HPRT DEFICIENCY: 75 NEW CASES AND A REVIEW OF 196 PREVIOUSLY REPORTED CASES.MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH. VOL. 463. ISSUE 3. P. 309 -326 59 92% 127
6 FU, R , JINNAH, HA , (2012) GENOTYPE-PHENOTYPE CORRELATIONS IN LESCH-NYHAN DISEASE MOVING BEYOND THE GENE.JOURNAL OF BIOLOGICAL CHEMISTRY. VOL. 287. ISSUE 5. P. 2997-3008 50 88% 11
7 KHASNAVIS, T , TORRES, RJ , SOMMERFELD, B , PUIG, JG , CHIPKIN, R , JINNAH, HA , (2016) A DOUBLE-BLIND, PLACEBO-CONTROLLED, CROSSOVER TRIAL OF THE SELECTIVE DOPAMINE D1 RECEPTOR ANTAGONIST ECOPIPAM IN PATIENTS WITH LESCH-NYHAN DISEASE.MOLECULAR GENETICS AND METABOLISM. VOL. 118. ISSUE 3. P. 160 -166 31 74% 1
8 TSCHIRNER, SK , GUTZKI, F , SCHNEIDER, EH , SEIFERT, R , KAEVER, V , (2016) NEUROTRANSMITTER AND THEIR METABOLITE CONCENTRATIONS IN DIFFERENT AREAS OF THE HPRT KNOCKOUT MOUSE BRAIN.JOURNAL OF THE NEUROLOGICAL SCIENCES. VOL. 365. ISSUE . P. 169 -174 26 87% 1
9 JINNAH, HA , (2009) LESCH-NYHAN DISEASE: FROM MECHANISM TO MODEL AND BACK AGAIN.DISEASE MODELS & MECHANISMS. VOL. 2. ISSUE 3-4. P. 116-121 28 90% 28
10 DAMMER, EB , GOTTLE, M , DUONG, DM , HANFELT, J , SEYFRIED, NT , JINNAH, HA , (2015) CONSEQUENCES OF IMPAIRED PURINE RECYCLING ON THE PROTEOME IN A CELLULAR MODEL OF LESCH-NYHAN DISEASE.MOLECULAR GENETICS AND METABOLISM. VOL. 114. ISSUE 4. P. 570 -579 36 62% 1

Classes with closest relation at Level 1


Rank Class id link
1 32029 APRT DEFICIENCY//ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY//2 8 DIHYDROXYADENINE
2 24376 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE//NUCLEOTIDE SYNTHESIS//PRPP SYNTHETASE
3 8076 HPRT//MUTATION RESEARCH//MUTANT FREQUENCY
4 37626 FACTITIOUS INJURY//GINGIVA INJURIES//BEAD STERILIZER
5 15693 PHOSPHORIBOSYLTRANSFERASE//MOL PARASITOL DRUG DESIGN//PURINE SALVAGE
6 16454 6 HYDROXYDOPAMINE//SUPERSENSITIZATION//CELLULAR CLIN NEUROBIOL PROGRAM
7 19971 HYPOXANTHINE//OXYPURINOL//NUCLEOTIDE METABOLITES
8 35980 ACUTE LIMBIC SEIZURES//ALLOPUNIROL//BILIMUBIN
9 25967 GUANOSINE//GUANINE BASED PURINES//AIT 082
10 33919 4 PYRIDONE 3 CARBOXAMIDE 1 BETA D RIBONUCLEOSIDE 4PYR//PCNR//4PYR

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