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

Basic class information

ID Publications Average number
of references
Avg. shr. active
ref. in WoS
8068 1222 26.8 64%



Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)



ID, lev.
above
Publications Label for level above
1351 7837 MAPLE SYRUP URINE DISEASE//METHYLMALONIC ACIDEMIA//JOURNAL OF INHERITED METABOLIC DISEASE

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 METHYLMALONIC ACIDEMIA Author keyword 144 80% 7% 89
2 PROPIONIC ACIDEMIA Author keyword 123 81% 6% 75
3 METHYLMALONIC ACIDURIA Author keyword 86 71% 6% 69
4 MMACHC Author keyword 41 100% 1% 15
5 ISOVALERIC ACIDEMIA Author keyword 33 77% 2% 23
6 CBLC Author keyword 27 83% 1% 15
7 METHYLMALONYL COA MUTASE Author keyword 24 53% 3% 32
8 PROPIONIC ACIDAEMIA Author keyword 24 82% 1% 14
9 PROPIONIC ACIDURIA Author keyword 24 91% 1% 10
10 ORGAN ACID SECT Address 18 83% 1% 10

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 METHYLMALONIC ACIDEMIA 144 80% 7% 89 Search METHYLMALONIC+ACIDEMIA Search METHYLMALONIC+ACIDEMIA
2 PROPIONIC ACIDEMIA 123 81% 6% 75 Search PROPIONIC+ACIDEMIA Search PROPIONIC+ACIDEMIA
3 METHYLMALONIC ACIDURIA 86 71% 6% 69 Search METHYLMALONIC+ACIDURIA Search METHYLMALONIC+ACIDURIA
4 MMACHC 41 100% 1% 15 Search MMACHC Search MMACHC
5 ISOVALERIC ACIDEMIA 33 77% 2% 23 Search ISOVALERIC+ACIDEMIA Search ISOVALERIC+ACIDEMIA
6 CBLC 27 83% 1% 15 Search CBLC Search CBLC
7 METHYLMALONYL COA MUTASE 24 53% 3% 32 Search METHYLMALONYL+COA+MUTASE Search METHYLMALONYL+COA+MUTASE
8 PROPIONIC ACIDAEMIA 24 82% 1% 14 Search PROPIONIC+ACIDAEMIA Search PROPIONIC+ACIDAEMIA
9 PROPIONIC ACIDURIA 24 91% 1% 10 Search PROPIONIC+ACIDURIA Search PROPIONIC+ACIDURIA
10 PCCB 15 73% 1% 11 Search PCCB Search PCCB

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 COMBINED METHYLMALONIC ACIDURIA 121 97% 3% 34
2 HOMOCYSTINURIA CBLC 89 100% 2% 27
3 COA MUTASE 67 77% 4% 46
4 COBALAMIN METABOLISM 51 83% 2% 29
5 ACIDEMIA 46 30% 10% 127
6 CBLC 42 94% 1% 15
7 METHYLMALONIC ACIDURIA 40 47% 5% 63
8 MMACHC 37 100% 1% 14
9 METHYLMALONIC ACIDEMIA 30 41% 5% 56
10 ACIDURIA 29 27% 8% 93

Journals

Reviews



Title Publ. year Cit. Active references % act. ref.
to same field
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management 2012 28 78 82%
Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance 2015 1 78 73%
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia 2014 7 250 72%
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy 2014 5 36 83%
Causes of and diagnostic approach to methylmalonic acidurias 2008 44 36 72%
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes 2012 21 98 53%
Navigating the B-12 Road: Assimilation, Delivery, and Disorders of Cobalamin 2013 14 73 47%
Neurodegeneration and chronic renal failure in methylmalonic aciduria - A pathophysiological approach 2008 41 50 56%
Lessons in biology from patients with inborn errors of vitamin B-12 metabolism 2013 5 33 76%
Propionic acidemia: mutation update and functional and structural effects of the variant alleles 2004 34 45 78%

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 ORGAN ACID SECT 18 83% 0.8% 10
2 UNIV KLINIKUM KINDER JUGENDHEILKUNDE 3 100% 0.2% 3
3 RADIZ RARE DIS INITIAT ZURICH 3 45% 0.4% 5
4 GRP MED GENET 2 67% 0.2% 2
5 DIAGNOST ENFERMEDADES MOL 2 17% 0.8% 10
6 CLIN PRIOR PROGRAM RARE DIS 2 43% 0.2% 3
7 SERV NEUROL MALAD METAB 2 43% 0.2% 3
8 KLIN BIOCHEM STOFFWECHSEL 1 25% 0.4% 5
9 INBORN METAB DIS 1 13% 0.8% 10
10 IMMUNOLTRANSLAT IMMUNOVIROL PROGRAM 1 100% 0.2% 2

Related classes at same level (level 1)



Rank Relatedness score Related classes
1 0.0000127291 MCAD DEFICIENCY//MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY//UNIT MOL MED
2 0.0000121826 PSEUDOVITAMIN B 12//PL BIO OURCES CHEM//AQUACOBALAMIN REDUCTASE
3 0.0000103958 L 2 HYDROXYGLUTARIC ACIDURIA//GLUTARIC ACIDURIA TYPE I//GLUTARIC ACIDURIA TYPE 1
4 0.0000096638 BETA KETOTHIOLASE DEFICIENCY//ACETOACETYL COA SYNTHETASE//3 HYDROXY 3 METHYLGLUTARIC ACIDURIA
5 0.0000083936 NONKETOTIC HYPERGLYCINEMIA//NON KETOTIC HYPERGLYCINEMIA//GLYCINE N ACYLTRANSFERASE
6 0.0000079673 ORNITHINE TRANSCARBAMYLASE DEFICIENCY//SLC25A13//CITRIN DEFICIENCY
7 0.0000077497 COBALAMIN//COBALAMIN DEFICIENCY//METHYLMALONIC ACID
8 0.0000076769 HOMOCYSTINURIA//CYSTATHIONINE BETA SYNTHASE//CYSTATHIONINE BETA SYNTHASE DEFICIENCY
9 0.0000068883 3 HYDROXYISOBUTYRATE DEHYDROGENASE//HIBCH//SERINE DEHYDROGENASE
10 0.0000052371 BIOTINIDASE DEFICIENCY//BIOTINIDASE//HOLOCARBOXYLASE SYNTHETASE