96 related articles for article (PubMed ID: 11588399)
41. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Acosta AX; Silva WA; Carvalho TM; Zago MA
Hum Mutat; 2001; 17(1):77. PubMed ID: 11139255
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. [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]
44. Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
Pérez B; Desviat LR; De Lucca M; Cornejo V; Raimann E; Ugarte M
Hum Mutat; 1999; 13(6):503. PubMed ID: 10408782
[TBL] [Abstract][Full Text] [Related]
45. 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]
46. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Dobrowolski SF; Heintz C; Miller T; Ellingson C; Ellingson C; Ozer I; Gökçay G; Baykal T; Thöny B; Demirkol M; Blau N
Mol Genet Metab; 2011 Feb; 102(2):116-21. PubMed ID: 21147011
[TBL] [Abstract][Full Text] [Related]
47. Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.
Hamzehloei T; Hosseini SA; Vakili R; Mojarad M
Gene; 2012 Sep; 506(1):230-2. PubMed ID: 22763404
[TBL] [Abstract][Full Text] [Related]
48. Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus.
Degioanni A; Darlu P
Eur J Hum Genet; 1994; 2(3):166-76. PubMed ID: 7834276
[TBL] [Abstract][Full Text] [Related]
49. Modern techniques of differentiating the various phenotypes of phenylketonuria.
Guttler F
Postgrad Med J; 1989; 65 Suppl 2():S2-6. PubMed ID: 2576129
[TBL] [Abstract][Full Text] [Related]
50. Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
Rivera I; Mendes D; Afonso Â; Barroso M; Ramos R; Janeiro P; Oliveira A; Gaspar A; Tavares de Almeida I
Mol Genet Metab; 2011; 104 Suppl():S86-92. PubMed ID: 21871829
[TBL] [Abstract][Full Text] [Related]
51. Frequencies of the most common mutations responsible for phenylketonuria in Poland.
Zekanowski C; Nowacka M; Zgulska M; Horst J; Cabalska B; Mazurczak T
Mol Cell Probes; 1994 Aug; 8(4):323-4. PubMed ID: 7870074
[TBL] [Abstract][Full Text] [Related]
52. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
DiLella AG; Marvit J; Brayton K; Woo SL
Nature; 1987 May 28-Jun 3; 327(6120):333-6. PubMed ID: 2884570
[TBL] [Abstract][Full Text] [Related]
53. [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
Zhang J; Meng J; Zhai X; Fang G; Gao J; Shi M; Wang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):134-7. PubMed ID: 15793771
[TBL] [Abstract][Full Text] [Related]
54. [Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
Qiang R; Yu W; Cai N; Wang X; Qin C; Zhang L; Ma X; Wang L; Shi X; Liu H; Li X; Wang X; He J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):74-7. PubMed ID: 24510568
[TBL] [Abstract][Full Text] [Related]
55. Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.
Bonyadi M; Omrani O; Moghanjoghi SM; Shiva S
Genet Test Mol Biomarkers; 2010 Apr; 14(2):233-5. PubMed ID: 20187763
[TBL] [Abstract][Full Text] [Related]
56. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.
Desviat LR; Pérez B; García MJ; Martínez-Pardo M; Baldellou A; Arena J; Sanjurjo P; Campistol J; Couce ML; Fernández A; Cardesa J; Ugarte M
Eur J Hum Genet; 1997; 5(4):196-202. PubMed ID: 9359039
[TBL] [Abstract][Full Text] [Related]
57. 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]
58. Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.
Romano V; Dianzani I; Ponzone A; Zammarchi E; Eisensmith R; Ceratto N; Bosco P; Indelicato A
Prenat Diagn; 1994 Oct; 14(10):959-62. PubMed ID: 7899270
[TBL] [Abstract][Full Text] [Related]
59. Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.
Zschocke J; Graham CA; Carson DJ; Nevin NC
Am J Hum Genet; 1995 Dec; 57(6):1311-7. PubMed ID: 8533759
[TBL] [Abstract][Full Text] [Related]
60. A Novel Variant in the
Alavinejad E; Sajedi SZ; Razipour M; Entezam M; Mohajer N; Setoodeh A; Talebi S; Keramatipour M
Avicenna J Med Biotechnol; 2017; 9(3):146-149. PubMed ID: 28706611
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]