Class information for:
Level 2: MAPLE SYRUP URINE DISEASE//METHYLMALONIC ACIDEMIA//JOURNAL OF INHERITED METABOLIC DISEASE

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
1351 7837 29.8 65%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 3)


ID, lev.
above		 Publications Label for level above
371 29923 HEPATIC ENCEPHALOPATHY//KETOGENIC DIET//CARNITINE

Classes in level below (level 1)


ID, lev. below Publications Label for level below
3313 1937 MCAD DEFICIENCY//MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY//UNIT MOL MED
8068 1222 METHYLMALONIC ACIDEMIA//PROPIONIC ACIDEMIA//METHYLMALONIC ACIDURIA
8127 1216 MAPLE SYRUP URINE DISEASE//BRANCHED CHAIN ALPHA KETO ACID DEHYDROGENASE COMPLEX//BCKDHA
8766 1150 CARNITINE PALMITOYLTRANSFERASE//CARNITINE PALMITOYLTRANSFERASE DEFICIENCY//MITOCHONDRIAL HMG COA SYNTHASE
11829 887 ELECTRON TRANSFERRING FLAVOPROTEIN//ACYL COA DEHYDROGENASE//2 4 DIENOYL COA REDUCTASE
16331 594 L 2 HYDROXYGLUTARIC ACIDURIA//GLUTARIC ACIDURIA TYPE I//GLUTARIC ACIDURIA TYPE 1
21433 360 BETA KETOTHIOLASE DEFICIENCY//ACETOACETYL COA SYNTHETASE//3 HYDROXY 3 METHYLGLUTARIC ACIDURIA
26414 210 L 3 HYDROXYBUTYRATE//FID GC FID//ACETOACETATE ESTERS
28311 171 D BETA HYDROXYBUTYRATE DEHYDROGENASE//D 3 HYDROXYBUTYRATE DEHYDROGENASE//HYDROXYBUTYRATE DEHYDROGENASE
33522 90 3 HYDROXYISOBUTYRATE DEHYDROGENASE//HIBCH//SERINE DEHYDROGENASE

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 MAPLE SYRUP URINE DISEASE Author keyword 197 77% 2% 133
2 METHYLMALONIC ACIDEMIA Author keyword 156 82% 1% 91
3 JOURNAL OF INHERITED METABOLIC DISEASE Journal 132 17% 9% 729
4 PROPIONIC ACIDEMIA Author keyword 129 82% 1% 76
5 L 2 HYDROXYGLUTARIC ACIDURIA Author keyword 110 95% 0% 37
6 GLUTARIC ACIDURIA TYPE I Author keyword 103 93% 0% 39
7 ISOVALERIC ACIDEMIA Author keyword 99 97% 0% 29
8 METHYLMALONIC ACIDURIA Author keyword 93 73% 1% 71
9 GLUTARYL COA DEHYDROGENASE Author keyword 81 96% 0% 25
10 GLUTARIC ACIDURIA TYPE 1 Author keyword 80 90% 0% 35

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 MAPLE SYRUP URINE DISEASE 197 77% 2% 133 Search MAPLE+SYRUP+URINE+DISEASE Search MAPLE+SYRUP+URINE+DISEASE
2 METHYLMALONIC ACIDEMIA 156 82% 1% 91 Search METHYLMALONIC+ACIDEMIA Search METHYLMALONIC+ACIDEMIA
3 PROPIONIC ACIDEMIA 129 82% 1% 76 Search PROPIONIC+ACIDEMIA Search PROPIONIC+ACIDEMIA
4 L 2 HYDROXYGLUTARIC ACIDURIA 110 95% 0% 37 Search L+2+HYDROXYGLUTARIC+ACIDURIA Search L+2+HYDROXYGLUTARIC+ACIDURIA
5 GLUTARIC ACIDURIA TYPE I 103 93% 0% 39 Search GLUTARIC+ACIDURIA+TYPE+I Search GLUTARIC+ACIDURIA+TYPE+I
6 ISOVALERIC ACIDEMIA 99 97% 0% 29 Search ISOVALERIC+ACIDEMIA Search ISOVALERIC+ACIDEMIA
7 METHYLMALONIC ACIDURIA 93 73% 1% 71 Search METHYLMALONIC+ACIDURIA Search METHYLMALONIC+ACIDURIA
8 GLUTARYL COA DEHYDROGENASE 81 96% 0% 25 Search GLUTARYL+COA+DEHYDROGENASE Search GLUTARYL+COA+DEHYDROGENASE
9 GLUTARIC ACIDURIA TYPE 1 80 90% 0% 35 Search GLUTARIC+ACIDURIA+TYPE+1 Search GLUTARIC+ACIDURIA+TYPE+1
10 MCAD DEFICIENCY 79 91% 0% 32 Search MCAD+DEFICIENCY Search MCAD+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 COA DEHYDROGENASE DEFICIENCY 431 70% 5% 362
2 COENZYME A DEHYDROGENASE 420 75% 4% 303
3 MCAD DEFICIENCY 270 92% 1% 109
4 ACIDEMIA TYPE I 246 97% 1% 69
5 ACIDEMIA 158 52% 3% 217
6 CHICK EMBRYO TELENCEPHALONS 129 100% 0% 36
7 ACIDURIA TYPE I 129 74% 1% 95
8 ACIDURIA 125 51% 2% 176
9 PREVALENT MUTATION 125 94% 1% 45
10 COMBINED METHYLMALONIC ACIDURIA 121 97% 0% 34

Journals


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 JOURNAL OF INHERITED METABOLIC DISEASE 132 17% 9% 729
2 MOLECULAR GENETICS AND METABOLISM 31 10% 4% 295

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
The mitochondrial carnitine palmitoyltransferase system - From concept to molecular analysis 1997 869 91 73%
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns 2003 279 109 62%
Fatty acid import into mitochondria 2000 267 104 50%
Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance 2015 1 78 73%
Mammalian mitochondrial beta-oxidation 1996 199 172 81%
Branched-chain amino acids in metabolic signalling and insulin resistance 2014 16 193 37%
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia 2014 7 250 76%
Interplay between Lipids and Branched-Chain Amino Acids in Development of Insulin Resistance 2012 116 49 24%
Fatty acid oxidation disorders 2002 155 86 77%
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management 2012 28 78 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 UNIT MOL MED 45 40% 1.1% 87
2 ORGAN ACID SECT 18 83% 0.1% 10
3 UNITE ETUD MALAD METAB 12 86% 0.1% 6
4 KLIN BIOCHEM STOFFWECHSEL 11 60% 0.2% 12
5 GENET METAB DIS 10 11% 1.1% 83
6 INBORN METAB DIS 9 32% 0.3% 24
7 SERV BIOCHIM PEDIAT 9 45% 0.2% 15
8 DIAGNOST ENFERMEDADES MOL 8 34% 0.3% 20
9 BIOCHEM GENET MOL BIOL 8 60% 0.1% 9
10 KIMBERLY H COURTWRIGHT JOSEPH W SUMMERS ME 8 56% 0.1% 10

Related classes at same level (level 2)


Rank Relatedness score Related classes
1 0.0000041389 CARNITINE//L CARNITINE//PROPIONYL L CARNITINE
2 0.0000016776 LIPOYL DOMAIN//PYRUVATE DEHYDROGENASE COMPLEX//NONKETOTIC HYPERGLYCINEMIA
3 0.0000014291 ADRENOLEUKODYSTROPHY//FATTY ACID BINDING PROTEIN//X LINKED ADRENOLEUKODYSTROPHY
4 0.0000013356 ALKAPTONURIA//OCHRONOSIS//HOMOGENTISIC ACID
5 0.0000012099 ACUTE NECROTIZING ENCEPHALOPATHY//MARCHIAFAVA BIGNAMI DISEASE//ENCEPHALITIS LETHARGICA
6 0.0000010778 ARGINASE//ORNITHINE TRANSCARBAMYLASE DEFICIENCY//SLC25A13
7 0.0000010647 KETOGENIC DIET//CONGENITAL HYPERINSULINISM//MODIFIED ATKINS DIET
8 0.0000009816 BIOTIN//HOLOCARBOXYLASE SYNTHETASE//BIOTINIDASE DEFICIENCY
9 0.0000007607 COENZYME B 12//ADENOSYLCOBALAMIN//COBALOXIMES
10 0.0000007589 CYSTINOSIS//PANTOTHENATE KINASE//PKAN