368 related articles for article (PubMed ID: 10570906)
21. Molecular basis of phenylketonuria in Cuba.
Desviat LR; Pérez B; Gutierrez E; Sánchez A; Barrios B; Ugarte M
Hum Mutat; 2001 Sep; 18(3):252. PubMed ID: 11524738
[TBL] [Abstract][Full Text] [Related]
22. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
Dobrowolski SF; Borski K; Ellingson CC; Koch R; Levy HL; Naylor EW
J Hum Genet; 2009 Jun; 54(6):335-9. PubMed ID: 19444284
[TBL] [Abstract][Full Text] [Related]
23. Genetic background of clinical homogeneity of phenylketonuria in Poland.
Jaruzelska J; Matuszak R; Lyonnet S; Rey F; Rey J; Filipowicz J; Borski K; Munnich A
J Med Genet; 1993 Mar; 30(3):232-4. PubMed ID: 8097262
[TBL] [Abstract][Full Text] [Related]
24. [Molecular genetic analysis of phenylketonuria in Bashkiria].
Viktorova TV; Murzabaeva SSh; Karunas AU; Magzhanov RV; Khusnutdinova EK
Genetika; 1997 Jul; 33(7):992-5. PubMed ID: 9378295
[TBL] [Abstract][Full Text] [Related]
25. [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]
26. PKU in Slovakia: mutation screening and haplotype analysis.
Kádasi L; Poláková H; Feráková E; Hudecová S; Bohusová T; Szomolayová I; Strnová J; Hruskovic I; Moschonas NK; Ferák V
Hum Genet; 1995 Jan; 95(1):112-4. PubMed ID: 7814013
[TBL] [Abstract][Full Text] [Related]
27. [Molecular genetic aspects of phenylketonuria (PKU)].
Giltay JC; van Hoef AM; de Weger R; Duran M; Berger R; Beemer FA
Tijdschr Kindergeneeskd; 1991 Jun; 59(3):77-80. PubMed ID: 1677790
[TBL] [Abstract][Full Text] [Related]
28. The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
Zschocke J; Preusse A; Sarnavka V; Fumic K; Mardesic D; Hoffmann GF; Baric I
Hum Mutat; 2003 Apr; 21(4):399. PubMed ID: 12655552
[TBL] [Abstract][Full Text] [Related]
29. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y; Drummond-Borg M; Garcia-Heras J
Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716
[TBL] [Abstract][Full Text] [Related]
30. The molecular basis of phenylketonuria in Lithuania.
Kasnauskiene J; Giannattasio S; Lattanzio P; Cimbalistiene L; Kucinskas V
Hum Mutat; 2003 Apr; 21(4):398. PubMed ID: 12655550
[TBL] [Abstract][Full Text] [Related]
31. Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients.
Kucinskas V; Jurgelevicius V; Cimbalistiene L; Holmgren G
Hum Hered; 1994; 44(2):110-3. PubMed ID: 8188310
[TBL] [Abstract][Full Text] [Related]
32. Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
Hofman KJ; Antonarakis SE; Missiou-Tsangaraki S; Boehm CD; Valle D
Mol Biol Med; 1989 Jun; 6(3):245-50. PubMed ID: 2615649
[TBL] [Abstract][Full Text] [Related]
33. [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]
34. Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.
O'Donnell KA; Tighe O; O'Neill C; Naughten E; Mayne PD; McCarthy TV; Vaughan P; Croke DT
Hum Mutat; 2001 May; 17(5):432. PubMed ID: 11317360
[TBL] [Abstract][Full Text] [Related]
35. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Eisensmith RC; Martinez DR; Kuzmin AI; Goltsov AA; Brown A; Singh R; Elsas LJ II; Woo SL
Pediatrics; 1996 Apr; 97(4):512-6. PubMed ID: 8632937
[TBL] [Abstract][Full Text] [Related]
36. Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.
Kuzmin AI; Eisensmith RC; Goltsov AA; Sergeeva NA; Schwartz EI; Woo SL
Eur J Hum Genet; 1995; 3(4):246-55. PubMed ID: 8528673
[TBL] [Abstract][Full Text] [Related]
37. [Screening for mutation variants in exons 5, 7, 12 of phenylalanine hydroxylase gene using denaturing gradient gel-electrophoresis].
Solovĭov OO; Livshyts' LA
Tsitol Genet; 2009; 43(4):20-4. PubMed ID: 19938643
[TBL] [Abstract][Full Text] [Related]
38. Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
Lilleväli H; Ounap K; Metspalu A
Eur J Hum Genet; 1996; 4(5):296-300. PubMed ID: 8946176
[TBL] [Abstract][Full Text] [Related]
39. RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.
Meijer H; Jongbloed RJ; Hekking M; Spaapen LJ; Geraedts JP
Hum Genet; 1993 Dec; 92(6):588-92. PubMed ID: 7903270
[TBL] [Abstract][Full Text] [Related]
40. Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.
Stojiljkovic M; Jovanovic J; Djordjevic M; Grkovic S; Cvorkov Drazic M; Petrucev B; Tosic N; Karan Djurasevic T; Stojanov L; Pavlovic S
Clin Genet; 2006 Aug; 70(2):151-5. PubMed ID: 16879198
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
