185 related articles for article (PubMed ID: 11043162)
1. Mutation analysis anticipates dietary requirements in phenylketonuria.
Güttler F; Guldberg P
Eur J Pediatr; 2000 Oct; 159 Suppl 2():S150-3. PubMed ID: 11043162
[TBL] [Abstract][Full Text] [Related]
2. PAH gene mutation analysis in clinical practice--comments on mutation analysis anticipates dietary requirements in phenylketonuria.
Zschocke J; Hoffmann GF
Eur J Pediatr; 2000 Oct; 159 Suppl 2():S154-5. PubMed ID: 11043163
[No Abstract] [Full Text] [Related]
3. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P; Rey F; Zschocke J; Romano V; François B; Michiels L; Ullrich K; Hoffmann GF; Burgard P; Schmidt H; Meli C; Riva E; Dianzani I; Ponzone A; Rey J; Güttler F
Am J Hum Genet; 1998 Jul; 63(1):71-9. PubMed ID: 9634518
[TBL] [Abstract][Full Text] [Related]
4. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Kasnauskiene J; Cimbalistiene L; Kucinskas V
Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis in hyperphenylalaninemia patients from South Italy.
Trunzo R; Santacroce R; D'Andrea G; Longo V; De Girolamo G; Dimatteo C; Leccese A; Lillo V; Papadia F; Margaglione M
Clin Biochem; 2013 Dec; 46(18):1896-8. PubMed ID: 23792259
[TBL] [Abstract][Full Text] [Related]
6. The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
Güttler F; Guldberg P
Eur J Pediatr; 1996 Jul; 155 Suppl 1():S6-10. PubMed ID: 8828600
[TBL] [Abstract][Full Text] [Related]
7. In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.
Guldberg P; Mikkelsen I; Henriksen KF; Lou HC; Güttler F
Eur J Pediatr; 1995 Jul; 154(7):551-6. PubMed ID: 7556322
[TBL] [Abstract][Full Text] [Related]
8. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E; Treacy E; Waters PJ; Byck S; Nowacki P; Scriver CR
Am J Hum Genet; 1997 Dec; 61(6):1309-17. PubMed ID: 9399896
[TBL] [Abstract][Full Text] [Related]
9. Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
Mallolas J; Vilaseca MA; Campistol J; Lambruschini N; Cambra FJ; Estivill X; Milà M
Hum Genet; 1999 Nov; 105(5):468-73. PubMed ID: 10598814
[TBL] [Abstract][Full Text] [Related]
10. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.
Svensson E; von Döbeln U; Eisensmith RC; Hagenfeldt L; Woo SL
Eur J Pediatr; 1993 Feb; 152(2):132-9. PubMed ID: 8444221
[TBL] [Abstract][Full Text] [Related]
11. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
Shu JB; Meng YT; Dang LH; Fu BJ; Song L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):635-41. PubMed ID: 23225039
[TBL] [Abstract][Full Text] [Related]
12. [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].
Qu YJ; Song F; Jin YW; Wang H; Zhang YM; Qin JL; Qiu L
Zhonghua Er Ke Za Zhi; 2008 Feb; 46(2):115-9. PubMed ID: 19099685
[TBL] [Abstract][Full Text] [Related]
13. Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.
Svensson E; Iselius L; Hagenfeldt L
J Inherit Metab Dis; 1994; 17(2):215-22. PubMed ID: 7967476
[TBL] [Abstract][Full Text] [Related]
14. The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
Bénit P; Rey F; Blandin-Savoja F; Munnich A; Abadie V; Rey J
Mol Genet Metab; 1999 Sep; 68(1):43-7. PubMed ID: 10479481
[TBL] [Abstract][Full Text] [Related]
15. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
Güttler F; Azen C; Guldberg P; Romstad A; Hanley WB; Levy HL; Matalon R; Rouse BM; Trefz F; de la Cruz F; Koch R
Pediatrics; 1999 Aug; 104(2 Pt 1):258-62. PubMed ID: 10429004
[TBL] [Abstract][Full Text] [Related]
16. Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
Kasnauskiene J; Cimbalistiene L; Kucinskas V
Genetika; 2008 Oct; 44(10):1397-403. PubMed ID: 19062537
[TBL] [Abstract][Full Text] [Related]
17. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
Konecki DS; Lichter-Konecki U
Hum Genet; 1991 Aug; 87(4):377-88. PubMed ID: 1679029
[TBL] [Abstract][Full Text] [Related]
18. PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
Wang ZW; Jiang SW; Zhou BC
Kaohsiung J Med Sci; 2018 Feb; 34(2):89-94. PubMed ID: 29413232
[TBL] [Abstract][Full Text] [Related]
19. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
Guldberg P; Romano V; Ceratto N; Bosco P; Ciuna M; Indelicato A; Mollica F; Meli C; Giovannini M; Riva E
Hum Mol Genet; 1993 Oct; 2(10):1703-7. PubMed ID: 8268925
[TBL] [Abstract][Full Text] [Related]
20. Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
Ledley FD; Levy HL; Woo SL
N Engl J Med; 1986 May; 314(20):1276-80. PubMed ID: 3702929
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
