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

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
14962 670 29.9 55%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)


ID, lev.
above		 Publications Label for level above
1852 5569 LESCH NYHAN SYNDROME//TIAZOFURIN//LESCH NYHAN DISEASE

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 LESCH NYHAN SYNDROME Author keyword 150 80% 14% 94
2 LESCH NYHAN DISEASE Author keyword 75 80% 7% 47
3 LESCH NYHAN Author keyword 23 70% 3% 19
4 KELLEY SEEGMILLER SYNDROME Author keyword 18 89% 1% 8
5 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY Author keyword 14 100% 1% 7
6 HPRT DEFICIENCY Author keyword 12 86% 1% 6
7 MED BIOCHEM GENET METAB Address 12 86% 1% 6
8 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE Author keyword 10 33% 4% 25
9 LESCH NYHAN VARIANT Author keyword 9 83% 1% 5
10 HPRT Author keyword 8 16% 7% 48

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 LESCH NYHAN SYNDROME 150 80% 14% 94 Search LESCH+NYHAN+SYNDROME Search LESCH+NYHAN+SYNDROME
2 LESCH NYHAN DISEASE 75 80% 7% 47 Search LESCH+NYHAN+DISEASE Search LESCH+NYHAN+DISEASE
3 LESCH NYHAN 23 70% 3% 19 Search LESCH+NYHAN Search LESCH+NYHAN
4 KELLEY SEEGMILLER SYNDROME 18 89% 1% 8 Search KELLEY+SEEGMILLER+SYNDROME Search KELLEY+SEEGMILLER+SYNDROME
5 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY 14 100% 1% 7 Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE+DEFICIENCY Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE+DEFICIENCY
6 HPRT DEFICIENCY 12 86% 1% 6 Search HPRT+DEFICIENCY Search HPRT+DEFICIENCY
7 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 10 33% 4% 25 Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE
8 LESCH NYHAN VARIANT 9 83% 1% 5 Search LESCH+NYHAN+VARIANT Search LESCH+NYHAN+VARIANT
9 HPRT 8 16% 7% 48 Search HPRT Search HPRT
10 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE HPRT DEFICIENCY 6 80% 1% 4 Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE+HPRT+DEFICIENCY Search HYPOXANTHINE+GUANINE+PHOSPHORIBOSYLTRANSFERASE+HPRT+DEFICIENCY

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 LESCH NYHAN SYNDROME 55 41% 16% 105
2 HPRT DEFICIENCY 33 67% 4% 30
3 GENETIC MOUSE MODEL 13 37% 4% 28
4 PHOSPHORIBOSYL TRANSFERASE DEFICIENCY 13 80% 1% 8
5 LESCH NYHAN DISEASE 12 35% 4% 28
6 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 12 21% 7% 50
7 GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY 9 59% 1% 10
8 INVITRO AMPLIFIED CDNA 8 100% 1% 5
9 PHOSPHORIBOSYLTRANSFERASE DEFICIENCY 7 67% 1% 6
10 ATTENUATED VARIANTS 6 71% 1% 5

Journals

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder 2014 5 123 90%
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome 2007 43 63 92%
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases 2000 120 64 86%
Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease 2014 1 23 91%
A REVIEW OF THE MOLECULAR-BASIS OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HPRT) DEFICIENCY 1992 93 53 68%
Botulinum toxin: Treatment of self-mutilation in patients with Lesch-Nyhan syndrome 2008 4 11 91%
Neurological Disorders of Purine and Pyrimidine Metabolism 2011 21 209 25%
Pediatric neurological syndromes and inborn errors of purine metabolism 2010 26 109 34%
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome 2005 17 26 62%
Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers 2010 3 17 82%

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 MED BIOCHEM GENET METAB 12 86% 0.9% 6
2 PURINE NEUROSCI 5 63% 0.7% 5
3 METAB VASC UNIT 2 44% 0.6% 4
4 ESTUDIO METABOLOPATIAS CONGENITAS 1 33% 0.4% 3
5 MITOCHONDRIAL METAB DIS 1 15% 0.9% 6
6 CATEDRA CLIN PEDIAT ESTUDIO METABOLOPATIAS CO 1 50% 0.1% 1
7 DEP CHILD ADOLESCENT PSYCHIAT 1 50% 0.1% 1
8 DIAGNOST MOL DIS 1 50% 0.1% 1
9 METAB VASC DIS UNIT 1 50% 0.1% 1
10 PLANTA SEMISOTANO 1 50% 0.1% 1

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000228995 HPRT//HPRT GENE//MUTANT FREQUENCY
2 0.0000164265 PHOSPHORIBOSYLTRANSFERASE//MOL PARASITOL DRUG DESIGN//HGXPRT
3 0.0000160245 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE//PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE//ARTHROBACTER A302
4 0.0000155642 APRT DEFICIENCY//ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY//2 8 DIHYDROXYADENINE
5 0.0000112139 NEONATAL 6 HYDROXYDOPAMINE//SUPERSENSITIZATION//PPE MESSENGER RNA
6 0.0000080211 PLASMA ADENOSINE//CEREBRAL CONVULSIONS//CSF PURINES
7 0.0000062445 CN II//PYRIMIDINE 5 NUCLEOTIDASE//5 NUCLEOTIDASES
8 0.0000057405 ATHETOID CEREBRAL PALSY//CIRCUMFERENTIAL SURGERY//DYSTONIA CERVICAL
9 0.0000056803 OXYPURINOL//OXIPURINOL//CAS 315 30 0
10 0.0000046962 GUANOSINE//NEOTROFIN//AIT 082