Class information for:
Level 2: JOURNAL OF INHERITED METABOLIC DISEASE//NEWBORN SCREENING//METHYLMALONIC ACIDEMIA

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
2144 5035 27.7 69%


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
389 3       PEROXISOME//CARNITINE//JOURNAL OF INHERITED METABOLIC DISEASE 30841
2144 2             JOURNAL OF INHERITED METABOLIC DISEASE//NEWBORN SCREENING//METHYLMALONIC ACIDEMIA 5035
2388 1                   NEWBORN SCREENING//MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY//UNIT MOL MED 2263
9072 1                   METHYLMALONIC ACIDEMIA//PROPIONIC ACIDEMIA//METHYLMALONIC ACIDURIA 1190
17020 1                   GLUTARIC ACIDURIA TYPE I//GLUTARIC ACIDURIA TYPE 1//L 2 HYDROXYGLUTARIC ACIDURIA 622
20380 1                   TERT BUTYLDIMETHYLSILYLATION//PROTEINOUS AMINO ACIDS//STAR SYMBOL PLOT 463
24942 1                   3 HYDROXY 3 METHYLGLUTARIC ACIDURIA//3 METHYLGLUTACONIC ACIDURIA//3 METHYLGLUTARIC ACID 296
28675 1                   3 HYDROXYISOBUTYRATE DEHYDROGENASE//ECHS1//3 HYDROXYISOBUTYRIC ACID 201

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 JOURNAL OF INHERITED METABOLIC DISEASE journal 602040 13% 15% 670
2 NEWBORN SCREENING authKW 585144 7% 29% 333
3 METHYLMALONIC ACIDEMIA authKW 550857 2% 85% 107
4 PROPIONIC ACIDEMIA authKW 464825 2% 87% 88
5 METHYLMALONIC ACIDURIA authKW 378796 2% 77% 81
6 INBORN ERRORS OF METABOLISM authKW 281905 3% 31% 151
7 GLUTARIC ACIDURIA TYPE I authKW 255157 1% 96% 44
8 GLUTARIC ACIDURIA TYPE 1 authKW 236592 1% 98% 40
9 MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY authKW 224187 1% 86% 43
10 L 2 HYDROXYGLUTARIC ACIDURIA authKW 218860 1% 95% 38

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 25090 30% 0% 1503
2 Medicine, Research & Experimental 18235 23% 0% 1160
3 Pediatrics 15315 20% 0% 986
4 Endocrinology & Metabolism 12771 20% 0% 1015
5 Medical Laboratory Technology 4835 5% 0% 270
6 Clinical Neurology 1358 9% 0% 434
7 Chemistry, Analytical 821 7% 0% 350
8 Biochemistry & Molecular Biology 532 13% 0% 662
9 Medical Ethics 481 1% 0% 32
10 Biochemical Research Methods 320 4% 0% 183

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 UNIT MOL MED 209598 2% 39% 89
2 ORGAN ACID SECT 91295 0% 94% 16
3 RADIZ RARE DIS INITIAT ZURICH 48704 0% 54% 15
4 GENET METAB DIS 47095 2% 10% 81
5 INBORN METAB DIS 44025 0% 29% 25
6 SERV GENET MED 43879 2% 7% 109
7 DIAGNOST ENFERMEDADES MOL 36167 0% 30% 20
8 METAB UNIT 35267 2% 5% 107
9 CIENCIAS BASICAS SAUDE 34107 2% 6% 102
10 BIOCHEM GENET MOL BIOL 32731 0% 60% 9

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 602040 13% 15% 670
2 MOLECULAR GENETICS AND METABOLISM 134229 5% 8% 263
3 GENETICS IN MEDICINE 13441 1% 4% 60
4 EUROPEAN JOURNAL OF PEDIATRICS 12986 3% 2% 127
5 PEDIATRIC RESEARCH 7442 2% 1% 107
6 CLINICA CHIMICA ACTA 6251 2% 1% 108
7 JOURNAL OF PEDIATRICS 6086 2% 1% 118
8 BRAIN & DEVELOPMENT 4429 1% 1% 52
9 JOURNAL OF CHROMATOGRAPHY 3201 2% 1% 101
10 BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY 3144 0% 3% 19

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 NEWBORN SCREENING 585144 7% 29% 333 Search NEWBORN+SCREENING Search NEWBORN+SCREENING
2 METHYLMALONIC ACIDEMIA 550857 2% 85% 107 Search METHYLMALONIC+ACIDEMIA Search METHYLMALONIC+ACIDEMIA
3 PROPIONIC ACIDEMIA 464825 2% 87% 88 Search PROPIONIC+ACIDEMIA Search PROPIONIC+ACIDEMIA
4 METHYLMALONIC ACIDURIA 378796 2% 77% 81 Search METHYLMALONIC+ACIDURIA Search METHYLMALONIC+ACIDURIA
5 INBORN ERRORS OF METABOLISM 281905 3% 31% 151 Search INBORN+ERRORS+OF+METABOLISM Search INBORN+ERRORS+OF+METABOLISM
6 GLUTARIC ACIDURIA TYPE I 255157 1% 96% 44 Search GLUTARIC+ACIDURIA+TYPE+I Search GLUTARIC+ACIDURIA+TYPE+I
7 GLUTARIC ACIDURIA TYPE 1 236592 1% 98% 40 Search GLUTARIC+ACIDURIA+TYPE+1 Search GLUTARIC+ACIDURIA+TYPE+1
8 MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY 224187 1% 86% 43 Search MEDIUM+CHAIN+ACYL+COA+DEHYDROGENASE+DEFICIENCY Search MEDIUM+CHAIN+ACYL+COA+DEHYDROGENASE+DEFICIENCY
9 L 2 HYDROXYGLUTARIC ACIDURIA 218860 1% 95% 38 Search L+2+HYDROXYGLUTARIC+ACIDURIA Search L+2+HYDROXYGLUTARIC+ACIDURIA
10 MCAD DEFICIENCY 195437 1% 92% 35 Search MCAD+DEFICIENCY Search MCAD+DEFICIENCY

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 HUEMER, M , DIODATO, D , SCHWAHN, B , SCHIFF, M , BANDEIRA, A , BENOIST, JF , BURLINA, A , CERONE, R , COUCE, ML , GARCIA-CAZORLA, A , ET AL (2017) GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF THE COBALAMIN-RELATED REMETHYLATION DISORDERS CBLC, CBLD, CBLE, CBLF, CBLG, CBLJ AND MTHFR DEFICIENCY.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 40. ISSUE 1. P. 21 -48 165 87% 1
2 BAUMGARTNER, MR , HORSTER, F , DIONISI-VICI, C , HALILOGLU, G , KARALL, D , CHAPMAN, KA , HUEMER, M , HOCHULI, M , ASSOUN, M , BALLHAUSEN, D , ET AL (2014) PROPOSED GUIDELINES FOR THE DIAGNOSIS AND MANAGEMENT OF METHYLMALONIC AND PROPIONIC ACIDEMIA.ORPHANET JOURNAL OF RARE DISEASES. VOL. 9. ISSUE . P. - 189 76% 28
3 FRASER, JL , VENDITTI, CP , (2016) METHYLMALONIC AND PROPIONIC ACIDEMIAS: CLINICAL MANAGEMENT UPDATE.CURRENT OPINION IN PEDIATRICS. VOL. 28. ISSUE 6. P. 682 -693 172 86% 0
4 BOY, N , MUHLHAUSEN, C , MAIER, EM , HERINGER, J , ASSMANN, B , BURGARD, P , DIXON, M , FLEISSNER, S , GREENBERG, CR , HARTING, I , ET AL (2017) PROPOSED RECOMMENDATIONS FOR DIAGNOSING AND MANAGING INDIVIDUALS WITH GLUTARIC ACIDURIA TYPE I: SECOND REVISION.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 40. ISSUE 1. P. 75 -101 111 79% 0
5 WAJNER, M , AMARAL, AU , (2016) MITOCHONDRIAL DYSFUNCTION IN FATTY ACID OXIDATION DISORDERS: INSIGHTS FROM HUMAN AND ANIMAL STUDIES.BIOSCIENCE REPORTS. VOL. 36. ISSUE . P. - 88 75% 1
6 KOLKER, S , CHRISTENSEN, E , LEONARD, JV , GREENBERG, CR , BONEH, A , BURLINA, AB , BURLINA, AP , DIXON, M , DURAN, M , CAZORLA, AG , ET AL (2011) DIAGNOSIS AND MANAGEMENT OF GLUTARIC ACIDURIA TYPE I - REVISED RECOMMENDATIONS.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 34. ISSUE 3. P. 677 -694 70 85% 63
7 FROESE, DS , GRAVEL, RA , (2010) GENETIC DISORDERS OF VITAMIN B-12 METABOLISM: EIGHT COMPLEMENTATION GROUPS - EIGHT GENES.EXPERT REVIEWS IN MOLECULAR MEDICINE. VOL. 12. ISSUE . P. - 92 73% 24
8 JAFARI, P , BRAISSANT, O , BONAFE, L , BALLHAUSEN, D , (2011) THE UNSOLVED PUZZLE OF NEUROPATHOGENESIS IN GLUTARIC ACIDURIA TYPE I.MOLECULAR GENETICS AND METABOLISM. VOL. 104. ISSUE 4. P. 425-437 83 78% 21
9 GREGERSEN, N , ANDRESEN, BS , CORYDON, M , CORYDON, TJ , OLSEN, RKJ , BOLUND, L , BROSS, P , (2001) MUTATION ANALYSIS IN MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS: EXEMPLIFIED BY ACYL-COA DEHYDROGENASE DEFICIENCIES, WITH SPECIAL FOCUS ON GENOTYPE-PHENOTYPE RELATIONSHIP.HUMAN MUTATION. VOL. 18. ISSUE 3. P. 169 -189 99 77% 103
10 HOUTEN, SM , VIOLANTE, S , VENTURA, FV , WANDERS, RJA , (2016) THE BIOCHEMISTRY AND PHYSIOLOGY OF MITOCHONDRIAL FATTY ACID BETA-OXIDATION AND ITS GENETIC DISORDERS.ANNUAL REVIEW OF PHYSIOLOGY, VOL 78. VOL. 78. ISSUE . P. 23 -44 75 56% 5

Classes with closest relation at Level 2


Rank Class id link
1 1504 CARNITINE//L CARNITINE//TRIMETAZIDINE
2 3543 ALKAPTONURIA//OCHRONOSIS//HOMOGENTISIC ACID
3 2868 PYRUVATE DEHYDROGENASE COMPLEX//NONKETOTIC HYPERGLYCINEMIA//DIHYDROLIPOAMIDE DEHYDROGENASE
4 2805 BIOTIN//BIOTINIDASE DEFICIENCY//BIOTINIDASE
5 1923 BAEYER VILLIGER OXIDATION//BAEYER VILLIGER MONOOXYGENASE//CYCLOHEXANONE MONOOXYGENASE
6 1356 PEROXISOME//ADRENOLEUKODYSTROPHY//ZELLWEGER SYNDROME
7 2411 PHENYLKETONURIA//PHENYLALANINE HYDROXYLASE//PKU
8 1445 HEPATIC ENCEPHALOPATHY//HYPERAMMONEMIA//MINIMAL HEPATIC ENCEPHALOPATHY
9 2833 BREADFRUIT//PRIMARY AROMATIC AMINES//ALIPHATIC AMINES
10 2556 COENZYME B 12//COBALOXIME//ADENOSYLCOBALAMIN

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