Class information for:
Level 1: PHENYLKETONURIA//PKU//HYPERPHENYLALANINEMIA

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
2133 2346 29.6 62%



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
11 4 NEUROSCIENCES//CLINICAL NEUROLOGY//NEUROL 1112395
124 3       PARKINSONS DISEASE//MOVEMENT DISORDERS//DEEP BRAIN STIMULATION 67777
2411 2             PHENYLKETONURIA//PHENYLALANINE HYDROXYLASE//PKU 4184
2133 1                   PHENYLKETONURIA//PKU//HYPERPHENYLALANINEMIA 2346

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 PHENYLKETONURIA authKW 7467548 32% 76% 756
2 PKU authKW 1547195 6% 83% 143
3 HYPERPHENYLALANINEMIA authKW 1212532 6% 71% 132
4 PHENYLALANINE HYDROXYLASE authKW 836692 5% 51% 125
5 MATERNAL PHENYLKETONURIA authKW 495772 2% 95% 40
6 SAPROPTERIN authKW 488436 2% 89% 42
7 PHENYLALANINE authKW 359283 7% 16% 170
8 JOURNAL OF INHERITED METABOLIC DISEASE journal 285613 13% 7% 315
9 PHENYLKETONURIA PKU authKW 232848 1% 62% 29
10 BH4 RESPONSIVENESS authKW 208226 1% 100% 16

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 20585 39% 0% 917
2 Medicine, Research & Experimental 11123 26% 0% 614
3 Endocrinology & Metabolism 10056 26% 0% 605
4 Pediatrics 8500 21% 0% 499
5 Nutrition & Dietetics 1109 6% 0% 148
6 Medical Laboratory Technology 315 2% 0% 51
7 Education, Special 276 1% 0% 28
8 Neurosciences 143 7% 0% 170
9 Clinical Neurology 97 4% 0% 104
10 Medicine, General & Internal 84 5% 0% 107

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 UNIDAD ENFERMENDADES METAB 130141 0% 100% 10
2 DEBELLE 98412 0% 69% 11
3 PKU FOLLOW UP UNIT 91099 0% 100% 7
4 UNIT DIAG TREATMENT CONGENITAL METAB DIS 75290 0% 64% 9
5 SECT METAB DIS 66804 1% 22% 23
6 PKU CLIN 65071 0% 100% 5
7 BEATRIX CHILDRENS HOSP 58051 3% 7% 63
8 PKU 54593 1% 26% 16
9 PKU PROGRAM 54224 0% 83% 5
10 DEBELLE BIOCHEM GENET 53135 0% 58% 7

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 285613 13% 7% 315
2 MOLECULAR GENETICS AND METABOLISM 183972 9% 7% 210
3 EUROPEAN JOURNAL OF PEDIATRICS 18124 4% 1% 102
4 SCREENING 7173 0% 14% 4
5 HUMAN MUTATION 6869 2% 1% 46
6 ACTA PAEDIATRICA 5329 2% 1% 58
7 HUMAN GENETICS 4683 2% 1% 54
8 JOURNAL OF MENTAL DEFICIENCY RESEARCH 2779 0% 2% 10
9 ORPHANET JOURNAL OF RARE DISEASES 2608 1% 1% 15
10 JOURNAL OF HUMAN NUTRITION AND DIETETICS 2407 1% 1% 16

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 PHENYLKETONURIA 7467548 32% 76% 756 Search PHENYLKETONURIA Search PHENYLKETONURIA
2 PKU 1547195 6% 83% 143 Search PKU Search PKU
3 HYPERPHENYLALANINEMIA 1212532 6% 71% 132 Search HYPERPHENYLALANINEMIA Search HYPERPHENYLALANINEMIA
4 PHENYLALANINE HYDROXYLASE 836692 5% 51% 125 Search PHENYLALANINE+HYDROXYLASE Search PHENYLALANINE+HYDROXYLASE
5 MATERNAL PHENYLKETONURIA 495772 2% 95% 40 Search MATERNAL+PHENYLKETONURIA Search MATERNAL+PHENYLKETONURIA
6 SAPROPTERIN 488436 2% 89% 42 Search SAPROPTERIN Search SAPROPTERIN
7 PHENYLALANINE 359283 7% 16% 170 Search PHENYLALANINE Search PHENYLALANINE
8 PHENYLKETONURIA PKU 232848 1% 62% 29 Search PHENYLKETONURIA+PKU Search PHENYLKETONURIA+PKU
9 BH4 RESPONSIVENESS 208226 1% 100% 16 Search BH4+RESPONSIVENESS Search BH4+RESPONSIVENESS
10 HYPERPHENYLALANINAEMIA 195746 1% 79% 19 Search HYPERPHENYLALANINAEMIA Search HYPERPHENYLALANINAEMIA

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 CAMP, KM , PARISI, MA , ACOSTA, PB , BERRY, GT , BILDER, DA , BLAU, N , BODAMER, OA , BROSCO, JP , BROWN, CS , BURLINA, AB , ET AL (2014) PHENYLKETONURIA SCIENTIFIC REVIEW CONFERENCE: STATE OF THE SCIENCE AND FUTURE RESEARCH NEEDS.MOLECULAR GENETICS AND METABOLISM. VOL. 112. ISSUE 2. P. 87 -122 236 86% 24
2 ENNS, GM , KOCH, R , BRUMM, V , BLAKELY, E , SUTER, R , JURECKI, E , (2010) SUBOPTIMAL OUTCOMES IN PATIENTS WITH PKU TREATED EARLY WITH DIET ALONE: REVISITING THE EVIDENCE.MOLECULAR GENETICS AND METABOLISM. VOL. 101. ISSUE 2-3. P. 99-109 147 94% 45
3 MITCHELL, JJ , TRAKADIS, YJ , SCRIVER, CR , (2011) PHENYLALANINE HYDROXYLASE DEFICIENCY.GENETICS IN MEDICINE. VOL. 13. ISSUE 8. P. 697 -707 102 94% 41
4 SINGH, RH , CUNNINGHAM, AC , MOFIDI, S , DOUGLAS, TD , FRAZIER, DM , HOOK, DG , JEFFERS, L , MCCUNE, H , MOSELEY, KD , OGATA, B , ET AL (2016) UPDATED, WEB-BASED NUTRITION MANAGEMENT GUIDELINE FOR PKU: AN EVIDENCE AND CONSENSUS BASED APPROACH.MOLECULAR GENETICS AND METABOLISM. VOL. 118. ISSUE 2. P. 72 -83 94 95% 0
5 BLAU, N , VAN SPRONSEN, FJ , LEVY, HL , (2010) PHENYLKETONURIA.LANCET. VOL. 376. ISSUE 9750. P. 1417 -1427 74 90% 158
6 VOCKLEY, J , ANDERSSON, HC , ANTSHEL, KM , BRAVERMAN, NE , BURTON, BK , FRAZIER, DM , MITCHELL, J , SMITH, WE , THOMPSON, BH , BERRY, SA , (2014) PHENYLALANINE HYDROXYLASE DEFICIENCY: DIAGNOSIS AND MANAGEMENT GUIDELINE.GENETICS IN MEDICINE. VOL. 16. ISSUE 2. P. 188-200 67 87% 42
7 DEMIRKOL, M , GIZEWSKA, M , GIOVANNINI, M , WALTER, J , (2011) FOLLOW UP OF PHENYLKETONURIA PATIENTS.MOLECULAR GENETICS AND METABOLISM. VOL. 104. ISSUE . P. S31 -S39 81 92% 20
8 ANDERSON, PJ , LEUZZI, V , (2010) WHITE MATTER PATHOLOGY IN PHENYLKETONURIA.MOLECULAR GENETICS AND METABOLISM. VOL. 99. ISSUE . P. S3-S9 75 94% 35
9 FEILLET, F , VAN SPRONSEN, FJ , MACDONALD, A , TREFZ, FK , DEMIRKOL, M , GIOVANNINI, M , BELANGER-QUINTANA, A , BLAU, N , (2010) CHALLENGES AND PITFALLS IN THE MANAGEMENT OF PHENYLKETONURIA.PEDIATRICS. VOL. 126. ISSUE 2. P. 333-341 71 99% 17
10 BELANGER-QUINTANA, A , BURLINA, A , HARDING, CO , MUNTAU, AC , (2011) UP TO DATE KNOWLEDGE ON DIFFERENT TREATMENT STRATEGIES FOR PHENYLKETONURIA.MOLECULAR GENETICS AND METABOLISM. VOL. 104. ISSUE . P. S19-S25 69 95% 25

Classes with closest relation at Level 1



Rank Class id link
1 20877 PHENYLALANINE DEHYDROGENASE//LEUCINE DEHYDROGENASE//VALINE DEHYDROGENASE
2 9156 PHENYLALANINE HYDROXYLASE//AROMATIC AMINO ACID HYDROXYLASE//TRYPTOPHAN HYDROXYLASE
3 4393 TETRAHYDROBIOPTERIN//GTP CYCLOHYDROLASE I//SEPIAPTERIN REDUCTASE
4 12281 GALACTOSEMIA//GALACTOSE 1 PHOSPHATE URIDYLTRANSFERASE//GALACTOSAEMIA
5 2388 NEWBORN SCREENING//MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY//UNIT MOL MED
6 24309 HISTIDASE//HISTIDINEMIA//HUTP
7 9072 METHYLMALONIC ACIDEMIA//PROPIONIC ACIDEMIA//METHYLMALONIC ACIDURIA
8 31667 AKW//ANESTHESIOL REANIMATHOL INTENS CARE//ATHYROID CARDIOMYOPATHY
9 20538 ETHYL ALPHA D GLUCOSIDE//TYROSINE TRANSPORT//TYROSINE
10 12015 ASPARTAME//SUCRALOSE//ARTIFICIAL SWEETENERS

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