Class information for:
Level 1: APRT DEFICIENCY//ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY//2 8 DIHYDROXYADENINE

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
32029 145 24.2 54%


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
236 3       ADENOSINE//NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS//ADENOSINE RECEPTORS 48331
1752 2             LESCH NYHAN SYNDROME//AMP DEAMINASE//LESCH NYHAN DISEASE 6485
32029 1                   APRT DEFICIENCY//ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY//2 8 DIHYDROXYADENINE 145

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 APRT DEFICIENCY authKW 1705776 6% 90% 9
2 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY authKW 1596041 8% 63% 12
3 2 8 DIHYDROXYADENINE authKW 1482892 9% 54% 13
4 2 8 DIHYDROXYADENINURIA authKW 1052950 3% 100% 5
5 ADENINE PHOSPHORIBOSYLTRANSFERASE APRT DEFICIENCY authKW 1052950 3% 100% 5
6 ADENINE PHOSPHORIBOSYLTRANSFERASE authKW 362917 6% 19% 9
7 CRYSTALLINE NEPHROPATHY authKW 236910 2% 38% 3
8 2 8 DHA UROLITHIASIS authKW 210590 1% 100% 1
9 2 8 DIHYDROXYADENINE DHA authKW 210590 1% 100% 1
10 2 8 DIHYDROXYADENINE DHA LITHIASIS authKW 210590 1% 100% 1

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 Urology & Nephrology 1408 29% 0% 42
2 Genetics & Heredity 432 23% 0% 34
3 Medical Laboratory Technology 148 6% 0% 8
4 Medicine, General & Internal 62 11% 0% 16
5 Pediatrics 54 8% 0% 11
6 Medicine, Research & Experimental 54 8% 0% 12
7 Transplantation 31 3% 0% 5
8 Biochemistry & Molecular Biology 21 14% 0% 21
9 Endocrinology & Metabolism 12 5% 0% 7
10 Microscopy 4 1% 0% 1

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 BIOCHIM METAB PROTEOM 210590 1% 100% 1
2 CHILDRENIS MED 210590 1% 100% 1
3 DEV MOL CYTOGENET 210590 1% 100% 1
4 LANDAKOTI INTERNAL MED 210590 1% 100% 1
5 MED PURINE 210590 1% 100% 1
6 PATHOL NISHI KU 210590 1% 100% 1
7 REFERENCE MALAD RENALES RA S OUEST 210590 1% 100% 1
8 RHEUMATOLNS BLDG241 NISHISHINJUKU 210590 1% 100% 1
9 TRANSPLANTAT HELSINKI UNIV CENT HOSP 210590 1% 100% 1
10 ALBERT E EIN MED SURG 105294 1% 50% 1

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 REVUE ROUMAINE DE BIOCHIMIE 6229 2% 1% 3
2 HUMAN GENETICS 2638 7% 0% 10
3 PADIATRIE UND PADOLOGIE 2364 1% 1% 1
4 CHIRURGIE PEDIATRIQUE 1539 1% 0% 2
5 CLINICAL INVESTIGATOR 1398 1% 0% 2
6 AMERICAN JOURNAL OF HUMAN GENETICS 649 3% 0% 5
7 AMERICAN JOURNAL OF KIDNEY DISEASES 616 3% 0% 5
8 MOLECULAR GENETICS AND METABOLISM 603 2% 0% 3
9 HUMAN MUTATION 473 2% 0% 3
10 JOURNAL OF UROLOGY 362 5% 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 APRT DEFICIENCY 1705776 6% 90% 9 Search APRT+DEFICIENCY Search APRT+DEFICIENCY
2 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY 1596041 8% 63% 12 Search ADENINE+PHOSPHORIBOSYLTRANSFERASE+DEFICIENCY Search ADENINE+PHOSPHORIBOSYLTRANSFERASE+DEFICIENCY
3 2 8 DIHYDROXYADENINE 1482892 9% 54% 13 Search 2+8+DIHYDROXYADENINE Search 2+8+DIHYDROXYADENINE
4 2 8 DIHYDROXYADENINURIA 1052950 3% 100% 5 Search 2+8+DIHYDROXYADENINURIA Search 2+8+DIHYDROXYADENINURIA
5 ADENINE PHOSPHORIBOSYLTRANSFERASE APRT DEFICIENCY 1052950 3% 100% 5 Search ADENINE+PHOSPHORIBOSYLTRANSFERASE+APRT+DEFICIENCY Search ADENINE+PHOSPHORIBOSYLTRANSFERASE+APRT+DEFICIENCY
6 ADENINE PHOSPHORIBOSYLTRANSFERASE 362917 6% 19% 9 Search ADENINE+PHOSPHORIBOSYLTRANSFERASE Search ADENINE+PHOSPHORIBOSYLTRANSFERASE
7 CRYSTALLINE NEPHROPATHY 236910 2% 38% 3 Search CRYSTALLINE+NEPHROPATHY Search CRYSTALLINE+NEPHROPATHY
8 2 8 DHA UROLITHIASIS 210590 1% 100% 1 Search 2+8+DHA+UROLITHIASIS Search 2+8+DHA+UROLITHIASIS
9 2 8 DIHYDROXYADENINE DHA 210590 1% 100% 1 Search 2+8+DIHYDROXYADENINE+DHA Search 2+8+DIHYDROXYADENINE+DHA
10 2 8 DIHYDROXYADENINE DHA LITHIASIS 210590 1% 100% 1 Search 2+8+DIHYDROXYADENINE+DHA+LITHIASIS Search 2+8+DIHYDROXYADENINE+DHA+LITHIASIS

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 CEBALLOS-PICOT, I , DAUDON, M , HARAMBAT, J , BENSMAN, A , KNEBELMANN, B , BOLLEE, G , (2014) 2,8-DIHYDROXYADENINE UROLITHIASIS: A NOT SO RARE INBORN ERROR OF PURINE METABOLISM.NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS. VOL. 33. ISSUE 4-6. P. 241-252 28 85% 0
2 BOLLEE, G , HARAMBAT, J , BENSMAN, A , KNEBELMANN, B , DAUDON, M , CEBALLOS-PICOT, I , (2012) ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY.CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. VOL. 7. ISSUE 9. P. 1521-1527 26 84% 13
3 ZAIDAN, M , PALSSON, R , MERIEAU, E , CORNEC-LE GALL, E , GARSTKA, A , MAGGIORE, U , DETEIX, P , BATTISTA, M , GAGNE, ER , CEBALLOS-PICOT, I , ET AL (2014) RECURRENT 2,8-DIHYDROXYADENINE NEPHROPATHY: A RARE BUT PREVENTABLE CAUSE OF RENAL ALLOGRAFT FAILURE.AMERICAN JOURNAL OF TRANSPLANTATION. VOL. 14. ISSUE 11. P. 2623 -2632 23 82% 5
4 BOLLEE, G , DOLLINGER, C , BOUTAUD, L , GUILLEMOT, D , BENSMAN, A , HARAMBAT, J , DETEIX, P , DAUDON, M , KNEBELMANN, B , CEBALLOS-PICOT, I , (2010) PHENOTYPE AND GENOTYPE CHARACTERIZATION OF ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY.JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. VOL. 21. ISSUE 4. P. 679-688 24 77% 22
5 BOUZIDI, H , LACOUR, B , DAUDON, M , (2007) 2,8-DIHYDROXYADENINE NEPHROLITHIASIS: FROM DIAGNOSIS TO THERAPY.ANNALES DE BIOLOGIE CLINIQUE. VOL. 65. ISSUE 6. P. 585-592 21 78% 9
6 VALAPERTA, R , RIZZO, V , LOMBARDI, F , VERDELLI, C , PICCOLI, M , GHIROLDI, A , CREO, P , COLOMBO, A , VALISI, M , MARGIOTTA, E , ET AL (2014) ADENINE PHOSPHORIBOSYLTRANSFERASE (APRT) DEFICIENCY: IDENTIFICATION OF A NOVEL NONSENSE MUTATION.BMC NEPHROLOGY. VOL. 15. ISSUE . P. - 15 88% 1
7 HARAMBAT, J , BOLLEE, G , DAUDON, M , CEBALLOS-PICOT, I , BENSMAN, A , (2012) ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN CHILDREN.PEDIATRIC NEPHROLOGY. VOL. 27. ISSUE 4. P. 571-579 16 73% 12
8 KAARTINEN, K , HEMMILA, U , SALMELA, K , RAISANEN-SOKOLOWSKI, A , KOURI, T , MAKELA, S , (2014) ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY AS A RARE CAUSE OF RENAL ALLOGRAFT DYSFUNCTION.JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. VOL. 25. ISSUE 4. P. 671-674 10 100% 4
9 NASR, SH , SETHI, S , CORNELL, LD , MILLINER, DS , BOELKINS, M , BROVIAC, J , FIDLER, ME , (2010) CRYSTALLINE NEPHROPATHY DUE TO 2,8-DIHYDROXYADENINURIA: AN UNDER-RECOGNIZED CAUSE OF IRREVERSIBLE RENAL FAILURE.NEPHROLOGY DIALYSIS TRANSPLANTATION. VOL. 25. ISSUE 6. P. 1909-1915 14 78% 15
10 COSTA, JAO , CABRERA, AZ , MONLEON, SF , (2002) UNCOMMON PURINIC LITHIASIS ADENINE PHOSPHORIBOSYLTRANSFERASE (APRT) DEFICIENCY AND HEREDITARY XANTHINURIA.MEDICINA CLINICA. VOL. 119. ISSUE 13. P. 508-515 26 53% 0

Classes with closest relation at Level 1


Rank Class id link
1 8076 HPRT//MUTATION RESEARCH//MUTANT FREQUENCY
2 15139 LESCH NYHAN SYNDROME//LESCH NYHAN DISEASE//LESCH NYHAN
3 19971 HYPOXANTHINE//OXYPURINOL//NUCLEOTIDE METABOLITES
4 22214 MTAP//METHYLTHIOADENOSINE PHOSPHORYLASE//METHIONINE SALVAGE PATHWAY
5 15693 PHOSPHORIBOSYLTRANSFERASE//MOL PARASITOL DRUG DESIGN//PURINE SALVAGE
6 24376 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE//NUCLEOTIDE SYNTHESIS//PRPP SYNTHETASE
7 24793 TRYPTAMINE 4 5 DIONE//INOSINE 5 TRIPHOSPHATE//2 4 HYDROXYBENZENEAZOBENZOIC ACID
8 530 HYPERCALCIURIA//UROLITHIASIS//NEPHROLITHIASIS
9 11674 PRIMARY HYPEROXALURIA//PRIMARY HYPEROXALURIA TYPE 1//ALANINE GLYOXYLATE AMINOTRANSFERASE
10 21473 GUANIDINO COMPOUNDS//METHYLGUANIDINE//GUANIDINOSUCCINIC ACID

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