Class information for:
Level 1: METHYLMALONIC ACIDEMIA//PROPIONIC ACIDEMIA//METHYLMALONIC ACIDURIA

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
9072 1190 27.5 70%


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
9072 1                   METHYLMALONIC ACIDEMIA//PROPIONIC ACIDEMIA//METHYLMALONIC ACIDURIA 1190

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 METHYLMALONIC ACIDEMIA authKW 2245071 9% 83% 105
2 PROPIONIC ACIDEMIA authKW 1878878 7% 85% 86
3 METHYLMALONIC ACIDURIA authKW 1525045 7% 75% 79
4 METHYLMALONYL COA MUTASE authKW 764196 4% 68% 44
5 MMACHC authKW 487509 2% 100% 19
6 ORGAN ACID SECT address 386383 1% 94% 16
7 CBLC authKW 370758 1% 85% 17
8 PROPIONIC ACIDAEMIA authKW 314311 1% 88% 14
9 PROPIONIC ACIDURIA authKW 256584 1% 100% 10
10 METHYLMALONIC ACID authKW 210795 4% 16% 52

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 9520 37% 0% 445
2 Medicine, Research & Experimental 5817 27% 0% 316
3 Endocrinology & Metabolism 3826 23% 0% 268
4 Pediatrics 3585 19% 0% 232
5 Biochemistry & Molecular Biology 327 18% 0% 212
6 Clinical Neurology 271 8% 0% 96
7 Medical Laboratory Technology 148 2% 0% 25
8 Transplantation 64 2% 0% 23
9 Ophthalmology 19 2% 0% 21
10 Biophysics 18 3% 0% 31

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 ORGAN ACID SECT 386383 1% 94% 16
2 RADIZ RARE DIS INITIAT ZURICH 206169 1% 54% 15
3 CLIN PRIOR PROGRAM RARE DIS 109376 1% 47% 9
4 UNIV KLINIKUM KINDER JUGENDHEILKUNDE 76975 0% 100% 3
5 DIAGNOST ENFERMEDADES MOL 64699 1% 19% 13
6 IMMUNOLTRANSLAT IMMUNOVIROL PROGRAM 51317 0% 100% 2
7 GENET MOL BIOL BRANCH 44312 2% 7% 26
8 CLIN PRIOR PROGRAM 34210 0% 67% 2
9 GRP MED GENET 34210 0% 67% 2
10 SERV NEUROL MALAD METAB 32986 0% 43% 3

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 162092 14% 4% 169
2 MOLECULAR GENETICS AND METABOLISM 55262 7% 3% 82
3 EUROPEAN JOURNAL OF PEDIATRICS 6636 4% 1% 44
4 HUMAN MUTATION 3385 2% 1% 23
5 BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY 3003 1% 1% 9
6 JOURNAL OF PEDIATRICS 2556 3% 0% 37
7 BRAIN & DEVELOPMENT 1784 1% 0% 16
8 JOURNAL OF CHILD NEUROLOGY 1502 1% 0% 17
9 NEUROPEDIATRICS 1247 1% 0% 10
10 AMERICAN JOURNAL OF HUMAN GENETICS 1245 2% 0% 20

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 METHYLMALONIC ACIDEMIA 2245071 9% 83% 105 Search METHYLMALONIC+ACIDEMIA Search METHYLMALONIC+ACIDEMIA
2 PROPIONIC ACIDEMIA 1878878 7% 85% 86 Search PROPIONIC+ACIDEMIA Search PROPIONIC+ACIDEMIA
3 METHYLMALONIC ACIDURIA 1525045 7% 75% 79 Search METHYLMALONIC+ACIDURIA Search METHYLMALONIC+ACIDURIA
4 METHYLMALONYL COA MUTASE 764196 4% 68% 44 Search METHYLMALONYL+COA+MUTASE Search METHYLMALONYL+COA+MUTASE
5 MMACHC 487509 2% 100% 19 Search MMACHC Search MMACHC
6 CBLC 370758 1% 85% 17 Search CBLC Search CBLC
7 PROPIONIC ACIDAEMIA 314311 1% 88% 14 Search PROPIONIC+ACIDAEMIA Search PROPIONIC+ACIDAEMIA
8 PROPIONIC ACIDURIA 256584 1% 100% 10 Search PROPIONIC+ACIDURIA Search PROPIONIC+ACIDURIA
9 METHYLMALONIC ACID 210795 4% 16% 52 Search METHYLMALONIC+ACID Search METHYLMALONIC+ACID
10 COBALAMIN METABOLISM 207831 1% 90% 9 Search COBALAMIN+METABOLISM Search COBALAMIN+METABOLISM

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 -48 164 86% 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. - 179 72% 28
3 FRASER, JL , VENDITTI, CP , (2016) METHYLMALONIC AND PROPIONIC ACIDEMIAS: CLINICAL MANAGEMENT UPDATE.CURRENT OPINION IN PEDIATRICS. VOL. 28. ISSUE 6. P. 682 -693 167 84% 0
4 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
5 CARRILLO-CARRASCO, N , CHANDLER, RJ , VENDITTI, CP , (2012) COMBINED METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, CBLC TYPE. I. CLINICAL PRESENTATIONS, DIAGNOSIS AND MANAGEMENT.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 35. ISSUE 1. P. 91-102 64 82% 35
6 WEISFELD-ADAMS, JD , MCCOURT, EA , DIAZ, GA , OLIVER, SC , (2015) OCULAR DISEASE IN THE COBALAMIN C DEFECT: A REVIEW OF THE LITERATURE AND A SUGGESTED FRAMEWORK FOR CLINICAL SURVEILLANCE.MOLECULAR GENETICS AND METABOLISM. VOL. 114. ISSUE 4. P. 537 -546 60 74% 5
7 FISCHER, S , HUEMER, M , BAUMGARTNER, M , DEODATO, F , BALLHAUSEN, D , BONEH, A , BURLINA, AB , CERONE, R , GARCIA, P , GOKCAY, G , ET AL (2014) CLINICAL PRESENTATION AND OUTCOME IN A SERIES OF 88 PATIENTS WITH THE CBLC DEFECT.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 37. ISSUE 5. P. 831 -840 46 92% 13
8 MORATH, MA , HORSTER, F , SAUER, SW , (2013) RENAL DYSFUNCTION IN METHYLMALONIC ACIDURIAS: REVIEW FOR THE PEDIATRIC NEPHROLOGIST.PEDIATRIC NEPHROLOGY. VOL. 28. ISSUE 2. P. 227-235 41 89% 4
9 WATKINS, D , ROSENBLATT, DS , (2011) INBORN ERRORS OF COBALAMIN ABSORPTION AND METABOLISM.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 157C. ISSUE 1. P. 33-44 54 63% 29
10 SPERL, W , SPIEKERKOETTER, U , STEINMANN, B , TADDEUCCI, G , TREJO-GABRIEL-GALAN, JM , TREFZ, F , TSUJI, M , VILASECA, MA , VON KLEIST-RETZOW, JC , WALKER, V , ET AL (2016) CLINICAL PATTERN, MUTATIONS AND IN VITRO RESIDUAL ACTIVITY IN 33 PATIENTS WITH SEVERE 5, 10 METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) DEFICIENCY.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 39. ISSUE 1. P. 115 -124 29 88% 3

Classes with closest relation at Level 1


Rank Class id link
1 17020 GLUTARIC ACIDURIA TYPE I//GLUTARIC ACIDURIA TYPE 1//L 2 HYDROXYGLUTARIC ACIDURIA
2 20380 TERT BUTYLDIMETHYLSILYLATION//PROTEINOUS AMINO ACIDS//STAR SYMBOL PLOT
3 1766 VITAMIN B 12 DEFICIENCY//COBALAMIN//METHYLMALONIC ACID
4 37064 MALONIC ACIDURIA//MALONYL COA DECARBOXYLASE DEFICIENCY//MALONYL COA DECARBOXYLASE
5 4786 ORNITHINE TRANSCARBAMYLASE DEFICIENCY//HYPERAMMONEMIA//UREA CYCLE DISORDERS
6 21832 HOMOCYSTINURIA//CYSTATHIONINE BETA SYNTHASE//CYSTATHIONINE BETA SYNTHASE DEFICIENCY
7 2388 NEWBORN SCREENING//MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY//UNIT MOL MED
8 2834 COENZYME B 12//COBALOXIME//ADENOSYLCOBALAMIN
9 21684 NONKETOTIC HYPERGLYCINEMIA//GLYCINE CLEAVAGE SYSTEM//NKH
10 24942 3 HYDROXY 3 METHYLGLUTARIC ACIDURIA//3 METHYLGLUTACONIC ACIDURIA//3 METHYLGLUTARIC ACID

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