Class information for:
Level 1: CONGENITAL DISORDERS OF GLYCOSYLATION//CDG//CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
15993 679 32.6 82%



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
103 3       O GLCNACYLATION//O GLCNAC TRANSFERASE//O GLCNACASE 73436
321 2             N GLYCAN//GLYCOBIOLOGY//GLYCOPROTEOMICS 18230
15993 1                   CONGENITAL DISORDERS OF GLYCOSYLATION//CDG//CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME 679

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 CONGENITAL DISORDERS OF GLYCOSYLATION authKW 2638498 13% 66% 89
2 CDG authKW 1986904 9% 71% 62
3 CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME authKW 1894239 7% 86% 49
4 CONGENITAL DISORDER OF GLYCOSYLATION authKW 1009210 5% 61% 37
5 PMM2 authKW 674546 2% 100% 15
6 PHOSPHOMANNOMUTASE authKW 630416 4% 52% 27
7 CDG IA authKW 629577 2% 100% 14
8 GLYCOBIOL CARBOHYDRATE CHEM PROGRAM address 426367 2% 59% 16
9 PHOSPHOMANNOMUTASE DEFICIENCY authKW 404728 1% 100% 9
10 PMM2 CDG authKW 359758 1% 100% 8

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 3869 32% 0% 216
2 Medicine, Research & Experimental 1825 20% 0% 136
3 Pediatrics 1460 17% 0% 113
4 Endocrinology & Metabolism 1072 16% 0% 110
5 Medical Laboratory Technology 496 5% 0% 32
6 Biochemistry & Molecular Biology 455 25% 0% 168
7 Clinical Neurology 171 8% 0% 57
8 Biophysics 92 5% 0% 36
9 Biochemical Research Methods 45 4% 0% 25
10 Ophthalmology 14 2% 0% 13

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 GLYCOBIOL CARBOHYDRATE CHEM PROGRAM 426367 2% 59% 16
2 GENET DIS PROGRAM 158361 1% 39% 9
3 HAYWARD GENET 129325 2% 18% 16
4 KINDERHEILKUNDE 1 112419 1% 50% 5
5 EAU RECH CDG 89940 0% 100% 2
6 FEDERAT STRUCT FUNCT BIOCHEM BIOMOL ASSEMBL 89940 0% 100% 2
7 PEDIAT NEUROL POLICLIN 89940 0% 100% 2
8 PROGRAM GLYCOBIOL CARBOHYDRATE CHEM 89940 0% 100% 2
9 SECT EXPT PAEDIAT 89940 0% 100% 2
10 RIGSHOSP 4062 89936 1% 50% 4

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 51526 11% 2% 72
2 MOLECULAR GENETICS AND METABOLISM 10478 4% 1% 27
3 GLYCOBIOLOGY 9096 4% 1% 24
4 ORPHANET JOURNAL OF RARE DISEASES 2577 1% 1% 8
5 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1972 2% 0% 12
6 GLYCOCONJUGATE JOURNAL 1839 1% 0% 9
7 AMERICAN JOURNAL OF HUMAN GENETICS 1788 3% 0% 18
8 EUROPEAN JOURNAL OF HUMAN GENETICS 1473 2% 0% 11
9 HUMAN MUTATION 1353 2% 0% 11
10 NEUROPEDIATRICS 1074 1% 0% 7

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 CONGENITAL DISORDERS OF GLYCOSYLATION 2638498 13% 66% 89 Search CONGENITAL+DISORDERS+OF+GLYCOSYLATION Search CONGENITAL+DISORDERS+OF+GLYCOSYLATION
2 CDG 1986904 9% 71% 62 Search CDG Search CDG
3 CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME 1894239 7% 86% 49 Search CARBOHYDRATE+DEFICIENT+GLYCOPROTEIN+SYNDROME Search CARBOHYDRATE+DEFICIENT+GLYCOPROTEIN+SYNDROME
4 CONGENITAL DISORDER OF GLYCOSYLATION 1009210 5% 61% 37 Search CONGENITAL+DISORDER+OF+GLYCOSYLATION Search CONGENITAL+DISORDER+OF+GLYCOSYLATION
5 PMM2 674546 2% 100% 15 Search PMM2 Search PMM2
6 PHOSPHOMANNOMUTASE 630416 4% 52% 27 Search PHOSPHOMANNOMUTASE Search PHOSPHOMANNOMUTASE
7 CDG IA 629577 2% 100% 14 Search CDG+IA Search CDG+IA
8 PHOSPHOMANNOMUTASE DEFICIENCY 404728 1% 100% 9 Search PHOSPHOMANNOMUTASE+DEFICIENCY Search PHOSPHOMANNOMUTASE+DEFICIENCY
9 PMM2 CDG 359758 1% 100% 8 Search PMM2+CDG Search PMM2+CDG
10 CDG SYNDROME 320071 2% 65% 11 Search CDG+SYNDROME Search CDG+SYNDROME

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 GRUNEWALD, S , (2009) THE CLINICAL SPECTRUM OF PHOSPHOMANNOMUTASE 2 DEFICIENCY (CDG-IA).BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. VOL. 1792. ISSUE 9. P. 827 -834 99 95% 43
2 HAEUPTLE, MA , HENNET, T , (2009) CONGENITAL DISORDERS OF GLYCOSYLATION: AN UPDATE ON DEFECTS AFFECTING THE BIOSYNTHESIS OF DOLICHOL-LINKED OLIGOSACCHARIDES.HUMAN MUTATION. VOL. 30. ISSUE 12. P. 1628 -1641 83 74% 80
3 KJAERGAARD, S , (2004) CONGENITAL DISORDERS OF GLYCOSYLATION TYPE IA AND IB - GENETIC, BIOCHEMICAL AND CLINICAL STUDIES.DANISH MEDICAL BULLETIN. VOL. 51. ISSUE 4. P. 350-363 91 88% 7
4 JAEKEN, J , MATTHIJS, G , (2001) CONGENITAL DISORDERS OF GLYCOSYLATION.ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS. VOL. 2. ISSUE . P. 129 -151 96 77% 97
5 BARONE, R , FIUMARA, A , JAEKEN, J , (2014) CONGENITAL DISORDERS OF GLYCOSYLATION WITH EMPHASIS ON CEREBELLAR INVOLVEMENT.SEMINARS IN NEUROLOGY. VOL. 34. ISSUE 3. P. 357 -366 62 68% 10
6 SCHACHTER, H , (2001) CONGENITAL DISORDERS INVOLVING DEFECTIVE N-GLYCOSYLATION OF PROTEINS.CELLULAR AND MOLECULAR LIFE SCIENCES. VOL. 58. ISSUE 8. P. 1085 -1104 103 58% 50
7 MARKLOVA, E , ALBAHRI, Z , (2007) SCREENING AND DIAGNOSIS OF CONGENITAL DISORDERS OF GLYCOSYLATION.CLINICA CHIMICA ACTA. VOL. 385. ISSUE 1-2. P. 6-20 75 66% 37
8 GRUNEWALD, S , MATTHIJS, G , JAEKEN, J , (2002) CONGENITAL DISORDERS OF GLYCOSYLATION: A REVIEW.PEDIATRIC RESEARCH. VOL. 52. ISSUE 5. P. 618-624 63 84% 93
9 CYLWIK, B , NAKLICKI, M , CHROSTEK, L , GRUSZEWSKA, E , (2013) CONGENITAL DISORDERS OF GLYCOSYLATION. PART I. DEFECTS OF PROTEIN N-GLYCOSYLATION.ACTA BIOCHIMICA POLONICA. VOL. 60. ISSUE 2. P. 151-161 44 88% 16
10 LEROY, JG , (2006) CONGENITAL DISORDERS OF N-GLYCOSYLATION INCLUDING DISEASES ASSOCIATED WITH O- AS WELL AS N-GLYCOSYLATION DEFECTS.PEDIATRIC RESEARCH. VOL. 60. ISSUE 6. P. 643-656 63 75% 36

Classes with closest relation at Level 1



Rank Class id link
1 10234 CARBOHYDRATE DEFICIENT TRANSFERRIN//CDT//CARBOHYDRATE DEFICIENT TRANSFERRIN CDT
2 5553 DOLICHOL//POLYPRENOLS//OLIGOSACCHARYLTRANSFERASE
3 18172 RHOMBENCEPHALOSYNAPSIS//PONTOCEREBELLAR HYPOPLASIA//CEREBELLAR AGENESIS
4 19824 NUCLEOTIDE SUGAR TRANSPORTER//UDP GALACTOSE TRANSPORTER//CMP SIALIC ACID TRANSPORTER
5 24056 CONGENITAL DYSERYTHROPOIETIC ANEMIA//CONGENITAL DYSERYTHROPOIETIC ANAEMIA//HEMPAS
6 24828 ECOM//FARMACOS//ONCOBIOL MOL OMOL
7 2218 GLYCOPROTEOMICS//GLYCOMICS//LECTIN MICROARRAY
8 11194 ALPHA MANNOSIDASE//GLUCOSIDASE II//FREE N GLYCAN
9 16395 CUTIS LAXA//FIBULIN 1//FIBULIN 5
10 37128 C MANNOSYLATION//MESIR PASTE//ACONOGONON MOLLE

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