Class information for:
Level 1: GLYCEROL KINASE DEFICIENCY//COMPLEX GLYCEROL KINASE DEFICIENCY//KOHLSCHUTTER TONZ SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
30643 165 26.1 63%


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
408 3       CHIM BIOINORGAN//POLO SCI//CARBONIC ANHYDRASE 29468
3350 2             VDAC//VOLTAGE DEPENDENT ANION CHANNEL//HEXOKINASE 1718
30643 1                   GLYCEROL KINASE DEFICIENCY//COMPLEX GLYCEROL KINASE DEFICIENCY//KOHLSCHUTTER TONZ SYNDROME 165

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 GLYCEROL KINASE DEFICIENCY authKW 3400539 13% 88% 21
2 COMPLEX GLYCEROL KINASE DEFICIENCY authKW 555191 2% 100% 3
3 KOHLSCHUTTER TONZ SYNDROME authKW 416392 2% 75% 3
4 PSEUDOHYPERTRIGLYCERIDEMIA authKW 370127 1% 100% 2
5 XP21 CONTIGUOUS GENE DELETION SYNDROME authKW 370127 1% 100% 2
6 GLYCEROL KINASE authKW 290795 7% 14% 11
7 HYPERGLYCEROLEMIA authKW 246750 1% 67% 2
8 LANDESKLIN KINDER JUGENDHEILKUNDE address 246750 1% 67% 2
9 ARACHIDONLY COA authKW 185064 1% 100% 1
10 BASIC SCI PROGRAMS address 185064 1% 100% 1

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 1820 44% 0% 72
2 Medicine, Research & Experimental 335 18% 0% 29
3 Medical Laboratory Technology 300 7% 0% 12
4 Pediatrics 242 14% 0% 23
5 Endocrinology & Metabolism 169 13% 0% 22
6 Biochemistry & Molecular Biology 48 18% 0% 30
7 Clinical Neurology 18 6% 0% 10
8 Medicine, General & Internal 11 5% 0% 9
9 Biotechnology & Applied Microbiology 7 4% 0% 7
10 Nutrition & Dietetics 3 2% 0% 3

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 LANDESKLIN KINDER JUGENDHEILKUNDE 246750 1% 67% 2
2 BASIC SCI PROGRAMS 185064 1% 100% 1
3 BIOMED ENGN INTER TRAINING PROGRAM 185064 1% 100% 1
4 BIOMED ENGN INTERDEPART PROGRAM 185064 1% 100% 1
5 CHILDRENS HOSP PAEDIAT METAB 185064 1% 100% 1
6 COLUMBIA HLTH SCI CHILD HLTH 185064 1% 100% 1
7 COLUMBIA HLTH SCI NEROL 185064 1% 100% 1
8 GONDA 4309 185064 1% 100% 1
9 IGBMCCERBMUMR7104U964 185064 1% 100% 1
10 JOHNS HOPKINS LIPID ATHEROSCLEROSIS 185064 1% 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 BIOCHEMICAL MEDICINE 9044 3% 1% 5
2 MOLECULAR GENETICS AND METABOLISM 3789 5% 0% 8
3 JOURNAL OF INHERITED METABOLIC DISEASE 1996 4% 0% 7
4 AMERICAN JOURNAL OF HUMAN GENETICS 1858 5% 0% 9
5 AMERICAN JOURNAL OF MEDICAL GENETICS 1028 4% 0% 7
6 HUMAN MOLECULAR GENETICS 922 4% 0% 7
7 CLINICAL GENETICS 903 3% 0% 5
8 GENOMICS 798 4% 0% 6
9 JOURNAL OF MEDICAL GENETICS 793 3% 0% 5
10 BIOCHEMICAL AND MOLECULAR MEDICINE 776 1% 0% 1

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 GLYCEROL KINASE DEFICIENCY 3400539 13% 88% 21 Search GLYCEROL+KINASE+DEFICIENCY Search GLYCEROL+KINASE+DEFICIENCY
2 COMPLEX GLYCEROL KINASE DEFICIENCY 555191 2% 100% 3 Search COMPLEX+GLYCEROL+KINASE+DEFICIENCY Search COMPLEX+GLYCEROL+KINASE+DEFICIENCY
3 KOHLSCHUTTER TONZ SYNDROME 416392 2% 75% 3 Search KOHLSCHUTTER+TONZ+SYNDROME Search KOHLSCHUTTER+TONZ+SYNDROME
4 PSEUDOHYPERTRIGLYCERIDEMIA 370127 1% 100% 2 Search PSEUDOHYPERTRIGLYCERIDEMIA Search PSEUDOHYPERTRIGLYCERIDEMIA
5 XP21 CONTIGUOUS GENE DELETION SYNDROME 370127 1% 100% 2 Search XP21+CONTIGUOUS+GENE+DELETION+SYNDROME Search XP21+CONTIGUOUS+GENE+DELETION+SYNDROME
6 GLYCEROL KINASE 290795 7% 14% 11 Search GLYCEROL+KINASE Search GLYCEROL+KINASE
7 HYPERGLYCEROLEMIA 246750 1% 67% 2 Search HYPERGLYCEROLEMIA Search HYPERGLYCEROLEMIA
8 ARACHIDONLY COA 185064 1% 100% 1 Search ARACHIDONLY+COA Search ARACHIDONLY+COA
9 CHROMOSOME XP21 CONTIGUOUS GENE SYNDROME 185064 1% 100% 1 Search CHROMOSOME+XP21+CONTIGUOUS+GENE+SYNDROME Search CHROMOSOME+XP21+CONTIGUOUS+GENE+SYNDROME
10 CHROMOSOME XP21 REGION DELETION 185064 1% 100% 1 Search CHROMOSOME+XP21+REGION+DELETION Search CHROMOSOME+XP21+REGION+DELETION

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 SJARIF, DR , VAN AMSTEL, JKP , DURAN, M , BEEMER, FA , POLL-THE, BT , (2000) ISOLATED AND CONTIGUOUS GLYCEROL KINASE GENE DISORDERS: A REVIEW.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 23. ISSUE 6. P. 529-547 44 67% 31
2 MORY, A , DAGAN, E , SHAHOR, I , MANDEL, H , ILLI, B , ZOLOTUSHKO, J , KUROLAP, A , CHECHIK, E , VALENTE, EM , AMSELEM, S , ET AL (2014) KOHLSCHUTTER-TONZ SYNDROME: CLINICAL AND GENETIC INSIGHTS GAINED FROM 16 CASES DERIVING FROM A CLOSE-KNIT VILLAGE IN NORTHERN ISRAEL.PEDIATRIC NEUROLOGY. VOL. 50. ISSUE 4. P. 421-426 11 100% 1
3 BACKES, JM , DAYSPRING, TD , HOEFNER, DM , CONTOIS, JH , MCCONNELL, JP , MORIARTY, PM , (2014) IDENTIFYING PSEUDOHYPERTRIGLYCERIDEMIA IN CLINICAL PRACTICE.CLINICAL LIPIDOLOGY. VOL. 9. ISSUE 6. P. 625 -641 20 50% 0
4 TUCCI, A , KARA, E , SCHOSSIG, A , WOLF, NI , PLAGNOL, V , FAWCETT, K , PAISAN-RUIZ, C , MOORE, M , HERNANDEZ, D , MUSUMECI, S , ET AL (2013) KOHLSCHUTTERTONZ SYNDROME: MUTATIONS IN ROGDI AND EVIDENCE OF GENETIC HETEROGENEITY.HUMAN MUTATION. VOL. 34. ISSUE 2. P. 296 -300 11 92% 2
5 DIPPLE, KM , ZHANG, YH , HUANG, BL , MCCABE, LL , DALLONGEVILLE, J , INOKUCHI, T , KIMURA, M , MARX, HJ , ROEDERER, GO , SHIH, V , ET AL (2001) GLYCEROL KINASE DEFICIENCY: EVIDENCE FOR COMPLEXITY IN A SINGLE GENE DISORDER.HUMAN GENETICS. VOL. 109. ISSUE 1. P. 55-62 17 68% 34
6 LEWIS, B , HARBORD, M , KEENAN, R , CAREY, W , HARRISON, R , ROBERTSON, E , (1994) ISOLATED GLYCEROL KINASE-DEFICIENCY IN A NEONATE.JOURNAL OF CHILD NEUROLOGY. VOL. 9. ISSUE 1. P. 70-73 17 89% 8
7 HELLERUD, C , ADAMOWICZ, M , JURKIEWICZ, D , TAYBERT, J , KUBALSKA, J , CIARA, E , POPOWSKA, E , ELLIS, JR , LINDSTEDT, S , PRONICKA, E , (2003) CLINICAL HETEROGENEITY AND MOLECULAR FINDINGS IN FIVE POLISH PATIENTS WITH GLYCEROL KINASE DEFICIENCY: INVESTIGATION OF TWO SPLICE SITE MUTATIONS WITH COMPUTERIZED SPLICE JUNCTION ANALYSIS AND XP21 GENE-SPECIFIC MRNA ANALYSIS.MOLECULAR GENETICS AND METABOLISM. VOL. 79. ISSUE 3. P. 149-159 18 60% 9
8 WIBMER, T , OTTO, J , PARHOFER, KG , OTTO, C , (2005) NOVEL MUTATION (GLY280ALA) IN THE ATP-BINDING DOMAIN OF GLYCEROL KINASE CAUSES SEVERE HYPERGLYCEROLEMIA.EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES. VOL. 113. ISSUE 7. P. 396-403 14 70% 3
9 HELLERUD, C , BURLINA, A , GABELLI, C , ELLIS, JR , NYHOLM, PG , LINDSTEDT, S , (2003) GLYCEROL METABOLISM AND THE DETERMINATION OF TRIGLYCERIDES - CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS IN SIX SUBJECTS.CLINICAL CHEMISTRY AND LABORATORY MEDICINE. VOL. 41. ISSUE 1. P. 46-55 20 49% 9
10 PANTOJA-MARTINEZ, J , MARTINEZ-CASTELLANO, F , TARAZONA-CASANY, I , BUESA-IBANEZ, E , ARDID-ENCINAR, M , ESPARZA-SANCHEZ, MA , ARZO, JB , (2007) CONTIGUOUS GENE DELETION SYNDROME IN XP21: THE ASSOCIATION BETWEEN GLYCEROL KINASE DEFICIENCY CONGENITAL SUPRARENAL HYPOPLASIA AND DUCHENNE'S MUSCULAR DYSTROPHY.REVISTA DE NEUROLOGIA. VOL. 44. ISSUE 10. P. 606-609 14 58% 4

Classes with closest relation at Level 1


Rank Class id link
1 8257 STEROIDOGENIC FACTOR 1//ADRENAL HYPOPLASIA CONGENITA//SF 1
2 1302 DYSTROPHIN//DUCHENNE MUSCULAR DYSTROPHY//BECKER MUSCULAR DYSTROPHY
3 15197 HEXOKINASE//HEXOKINASE II//BRAIN HEXOKINASE
4 34941 TPPP P25//TUBULIN POLYMERIZATION PROMOTING PROTEIN P25//TPPP3
5 35597 FROZEN BEEF BRAIN//GASTROINTESTINAL TRACT POISONING//HEATED SODIUM DODECYL SULFATE COLUMN
6 17553 FRUCTOSE 1 6 BISPHOSPHATASE//FBPASE//MUSCLE FBPASE
7 27435 OLIVE OIL DIET//AGE OF MYOCARDIAL INFARCT//AQUOPORIN 7
8 8667 X LINKED MENTAL RETARDATION//XLMR//PQBP1
9 27797 INDICATOR REACTION//FLUOROMETRIC ANALYSIS OF GLUCOSE//3 HYDROXY 2 4 6 TRIIODOBENZOIC ACID
10 14922 VDAC//VOLTAGE DEPENDENT ANION CHANNEL//MITOCHONDRIAL PORIN

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