Class information for:
Level 1: ORNITHINE TRANSCARBAMYLASE DEFICIENCY//HYPERAMMONEMIA//UREA CYCLE DISORDERS

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
4786 1726 25.0 64%


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
630 3       HEPATIC ENCEPHALOPATHY//ASYMMETRIC DIMETHYLARGININE//HYPERAMMONEMIA 13067
1445 2             HEPATIC ENCEPHALOPATHY//HYPERAMMONEMIA//MINIMAL HEPATIC ENCEPHALOPATHY 7828
4786 1                   ORNITHINE TRANSCARBAMYLASE DEFICIENCY//HYPERAMMONEMIA//UREA CYCLE DISORDERS 1726

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 ORNITHINE TRANSCARBAMYLASE DEFICIENCY authKW 1356343 5% 84% 91
2 HYPERAMMONEMIA authKW 1070161 12% 30% 203
3 UREA CYCLE DISORDERS authKW 1006305 5% 67% 85
4 CITRULLINEMIA authKW 730311 3% 81% 51
5 MOL METAB BIOCHEM GENET address 630243 3% 76% 47
6 CITRIN DEFICIENCY authKW 619139 2% 100% 35
7 SLC25A13 authKW 584263 2% 97% 34
8 UREA CYCLE authKW 505140 5% 33% 87
9 ORNITHINE TRANSCARBAMYLASE authKW 439028 3% 56% 44
10 CITRIN authKW 385741 2% 84% 26

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 7337 28% 0% 478
2 Pediatrics 6035 21% 0% 361
3 Medicine, Research & Experimental 5677 22% 0% 380
4 Endocrinology & Metabolism 3109 17% 0% 297
5 Medical Laboratory Technology 916 4% 0% 70
6 Gastroenterology & Hepatology 262 5% 0% 78
7 Clinical Neurology 232 7% 0% 114
8 Transplantation 228 3% 0% 48
9 Medicine, General & Internal 195 7% 0% 114
10 Nutrition & Dietetics 121 3% 0% 49

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 MOL METAB BIOCHEM GENET 630243 3% 76% 47
2 METAB DIS CLIN GENET UNIT 35379 0% 100% 2
3 UOC MALATTIE METAB EREDITARIE 35379 0% 100% 2
4 UOC PATOL METAB 35379 0% 100% 2
5 REFERENCE INHERITED METAB DISORDERS MAMEA 31839 0% 60% 3
6 UNITAT METABOLOPATIES 31839 0% 60% 3
7 HUMAN GENET MED GENET 31444 0% 44% 4
8 MAINE PEDIAT SPECIALTY GRP 23585 0% 67% 2
9 OM RACHNA SOC 23585 0% 67% 2
10 UNIV KLIN CHEM 23585 0% 67% 2

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 JOURNAL OF INHERITED METABOLIC DISEASE 121106 10% 4% 176
2 MOLECULAR GENETICS AND METABOLISM 48968 5% 3% 93
3 JOURNAL OF PEDIATRICS 5810 4% 1% 67
4 ENZYME 4571 1% 2% 14
5 HUMAN MUTATION 4235 2% 1% 31
6 EUROPEAN JOURNAL OF PEDIATRICS 4140 2% 1% 42
7 ENZYME & PROTEIN 3137 0% 4% 4
8 BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY 3090 1% 2% 11
9 CLINICA CHIMICA ACTA 2024 2% 0% 36
10 PEDIATRIC RESEARCH 1583 2% 0% 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 ORNITHINE TRANSCARBAMYLASE DEFICIENCY 1356343 5% 84% 91 Search ORNITHINE+TRANSCARBAMYLASE+DEFICIENCY Search ORNITHINE+TRANSCARBAMYLASE+DEFICIENCY
2 HYPERAMMONEMIA 1070161 12% 30% 203 Search HYPERAMMONEMIA Search HYPERAMMONEMIA
3 UREA CYCLE DISORDERS 1006305 5% 67% 85 Search UREA+CYCLE+DISORDERS Search UREA+CYCLE+DISORDERS
4 CITRULLINEMIA 730311 3% 81% 51 Search CITRULLINEMIA Search CITRULLINEMIA
5 CITRIN DEFICIENCY 619139 2% 100% 35 Search CITRIN+DEFICIENCY Search CITRIN+DEFICIENCY
6 SLC25A13 584263 2% 97% 34 Search SLC25A13 Search SLC25A13
7 UREA CYCLE 505140 5% 33% 87 Search UREA+CYCLE Search UREA+CYCLE
8 ORNITHINE TRANSCARBAMYLASE 439028 3% 56% 44 Search ORNITHINE+TRANSCARBAMYLASE Search ORNITHINE+TRANSCARBAMYLASE
9 CITRIN 385741 2% 84% 26 Search CITRIN Search CITRIN
10 UREA CYCLE DEFECT 377753 2% 69% 31 Search UREA+CYCLE+DEFECT Search UREA+CYCLE+DEFECT

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 HABERLE, J , BODDAERT, N , BURLINA, A , CHAKRAPANI, A , DIXON, M , HUEMER, M , KARALL, D , MARTINELLI, D , CRESPO, PS , SANTER, R , ET AL (2012) SUGGESTED GUIDELINES FOR THE DIAGNOSIS AND MANAGEMENT OF UREA CYCLE DISORDERS.ORPHANET JOURNAL OF RARE DISEASES. VOL. 7. ISSUE . P. - 156 70% 66
2 WOO, HI , PARK, HD , LEE, YW , (2014) MOLECULAR GENETICS OF CITRULLINEMIA TYPES I AND II.CLINICA CHIMICA ACTA. VOL. 431. ISSUE . P. 1-8 86 93% 4
3 YAMAGUCHI, S , BRAILEY, LL , MORIZONO, H , BALE, AE , TUCHMAN, M , (2006) MUTATIONS AND POLYMORPHISMS IN THE HUMAN ORNITHINE TRANSCARBAMYLASE (OTC) GENE.HUMAN MUTATION. VOL. 27. ISSUE 7. P. 626-632 66 93% 58
4 CALDOVIC, L , ABDIKARIM, I , NARAIN, S , TUCHMAN, M , MORIZONO, H , (2015) GENOTYPE-PHENOTYPE CORRELATIONS IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY: A MUTATION UPDATE.JOURNAL OF GENETICS AND GENOMICS. VOL. 42. ISSUE 5. P. 181 -194 54 86% 1
5 CLAY, AS , HAINLINE, BE , (2007) HYPERAMMONEMIA IN THE ICU.CHEST. VOL. 132. ISSUE 4. P. 1368-1378 77 63% 51
6 TUCHMAN, M , JALEEL, N , MORIZONO, H , SHEEHY, L , LYNCH, MG , (2002) MUTATIONS AND POLYMORPHISMS IN THE HUMAN ORNITHINE TRANSCARBAMYLASE GENE.HUMAN MUTATION. VOL. 19. ISSUE 2. P. 93-107 58 92% 69
7 KOBAYASHI, K , SAHEKI, T , (2004) MOLECULAR BASIS OF CITRIN DEFICIENCY.SEIKAGAKU. VOL. 76. ISSUE 12. P. 1543-1559 68 81% 6
8 CARTAGENA, A , PRASAD, AN , RUPAR, CA , STRONG, M , TUCHMAN, M , MEW, NA , PRASAD, C , (2013) RECURRENT ENCEPHALOPATHY: NAGS (N-ACETYLGLUTAMATE SYNTHASE) DEFICIENCY IN ADULTS.CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES. VOL. 40. ISSUE 1. P. 3 -9 43 96% 5
9 BRAISSANT, O , (2010) CURRENT CONCEPTS IN THE PATHOGENESIS OF UREA CYCLE DISORDERS.MOLECULAR GENETICS AND METABOLISM. VOL. 100. ISSUE . P. S3-S12 70 53% 47
10 AURON, A , BROPHY, PD , (2012) HYPERAMMONEMIA IN REVIEW: PATHOPHYSIOLOGY, DIAGNOSIS, AND TREATMENT.PEDIATRIC NEPHROLOGY. VOL. 27. ISSUE 2. P. 207 -222 56 62% 28

Classes with closest relation at Level 1


Rank Class id link
1 19398 UREA SYNTHESIS//HEPATIC AMINO NITROGEN CONVERSION//N ACETYLGLUTAMATE DEGRADATION
2 34588 GLYCINE N ACYLTRANSFERASE//MEDIUM CHAIN ACYL COA SYNTHETASE//GLYCINE CONJUGATION
3 23938 GYRATE ATROPHY//ORNITHINE AMINOTRANSFERASE//GYRATE ATROPHY OF THE CHOROID AND RETINA
4 9072 METHYLMALONIC ACIDEMIA//PROPIONIC ACIDEMIA//METHYLMALONIC ACIDURIA
5 36630 BIOCHEMIA MEDICA//DATA NUMERICAL//DIAGNOSTIC ACCURACY TESTS
6 7846 ARGINASE//ARGINASE II//ARGINASE INHIBITORS
7 27711 PHENYLACETATE//ANTINEOPLASTON AS2 1//PHENYLBUTYRATE
8 35462 SECT NEUROSCI ORAL BIOL//ORAL BIOLSECT NEUROSCI//ABTB2
9 1078 HEPATIC ENCEPHALOPATHY//MINIMAL HEPATIC ENCEPHALOPATHY//METABOLIC BRAIN DISEASE
10 34404 ORNITHINE CARBAMYLTRANSFERASE//TYPE I ARGINASE//ORNITHINE CARBAMOYLTRANSFERASE

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