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Journal Abstract Search

152 related items for PubMed ID: 31703126

  • 41. Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
    Romstad A, Guldberg P, Blau N, Güttler F.
    Clin Chem; 1999 Dec; 45(12):2102-8. PubMed ID: 10585341
    [Abstract] [Full Text] [Related]

  • 42. Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
    Ngiwsara L, Vatanavicharn N, Sawangareetrakul P, Liammongkolkul S, Ratanarak P, Boonyawat B, Srisomsap C, Champattanachai V, Ketudat-Cairns J, Wasant P, Svasti J.
    Mol Biol Rep; 2021 Mar; 48(3):2063-2070. PubMed ID: 33677757
    [Abstract] [Full Text] [Related]

  • 43. Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
    Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N.
    Mol Genet Metab; 2020 Dec; 131(4):380-389. PubMed ID: 33234470
    [Abstract] [Full Text] [Related]

  • 44. [Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria].
    Chai Y, Ning H, Xia J, Wang Y, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun 10; 41(6):702-707. PubMed ID: 38818554
    [Abstract] [Full Text] [Related]

  • 45. Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.
    Bardelli T, Donati MA, Gasperini S, Ciani F, Belli F, Blau N, Morrone A, Zammarchi E.
    Mol Genet Metab; 2002 Nov 10; 77(3):260-6. PubMed ID: 12409276
    [Abstract] [Full Text] [Related]

  • 46. Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.
    Vatanavicharn N, Kuptanon C, Liammongkolkul S, Liu TT, Hsiao KJ, Ratanarak P, Blau N, Wasant P.
    J Inherit Metab Dis; 2009 Dec 10; 32 Suppl 1():S279-82. PubMed ID: 19830588
    [Abstract] [Full Text] [Related]

  • 47. Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
    Dateki S, Watanabe S, Nakatomi A, Kinoshita E, Matsumoto T, Yoshiura K, Moriuchi H.
    Pediatr Int; 2016 May 10; 58(5):431-3. PubMed ID: 27173423
    [Abstract] [Full Text] [Related]

  • 48. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F, Guldberg P.
    Acta Paediatr Suppl; 1994 Dec 10; 407():49-56. PubMed ID: 7766959
    [Abstract] [Full Text] [Related]

  • 49. [Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency].
    Ye J, Liu X, Huang X.
    Zhonghua Yi Xue Za Zhi; 2000 Jul 10; 80(7):513-5. PubMed ID: 11798810
    [Abstract] [Full Text] [Related]

  • 50. Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.
    Zhou D, Yang R, Huang X, Huang X, Yang X, Mao H, Yang J, Zhao Z.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2023 Dec 16; 52(6):683-692. PubMed ID: 38105685
    [Abstract] [Full Text] [Related]

  • 51. Clinical, biochemical and molecular spectrum of mild 6-pyruvoyl-tetrahydropterin synthase deficiency and a case report.
    Song B, Ma Z, Liu W, Lu L, Jian Y, Yu L, Wan Z, Yue X, Kong Y.
    Fetal Pediatr Pathol; 2021 Dec 16; 40(6):707-716. PubMed ID: 32202960
    [Abstract] [Full Text] [Related]

  • 52. Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Muniz JRC, Szeto NW, Frise R, Lee WH, Wang XS, Thöny B, Himmelreich N, Blau N, Hsiao KJ, Liu TT, Gileadi O, Oppermann U, Von Delft F, Yue WW, Tang NL.
    Pathology; 2019 Apr 16; 51(3):274-280. PubMed ID: 30853107
    [Abstract] [Full Text] [Related]

  • 53. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
    Ye J, Liu XQ, Qiu WJ, Han LS, Zhou JD, Zhang YF, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr 16; 24(2):210-2. PubMed ID: 17407085
    [Abstract] [Full Text] [Related]

  • 54. [PTPS gene analysis and prenatal diagnosis in patients with 6-pyruvoyl-tetra hydropterin synthase deficiency].
    Liu N, Zhao DH, Li XL, Cui LX, Wu QH, Jiang M, Kong XD.
    Zhonghua Fu Chan Ke Za Zhi; 2016 Dec 25; 51(12):890-894. PubMed ID: 28057123
    [Abstract] [Full Text] [Related]

  • 55. Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.
    Ye J, Yang Y, Yu W, Zou H, Jiang J, Yang R, Shang S, Gu X.
    J Inherit Metab Dis; 2013 Sep 25; 36(5):893-901. PubMed ID: 23138986
    [Abstract] [Full Text] [Related]

  • 56. [Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
    Qu YJ, Song F, Jin YW, Wang H.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2008 Apr 25; 30(2):170-4. PubMed ID: 18505119
    [Abstract] [Full Text] [Related]

  • 57. [The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
    Yan Y, Hao S, Yao F, Sun Q, Zheng L, Zhang Q, Zhang C, Yang T, Huang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec 25; 31(6):686-92. PubMed ID: 25449068
    [Abstract] [Full Text] [Related]

  • 58. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
    Thöny B, Blau N.
    Hum Mutat; 2006 Sep 25; 27(9):870-8. PubMed ID: 16917893
    [Abstract] [Full Text] [Related]

  • 59. 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 25; 46(18):1896-8. PubMed ID: 23792259
    [Abstract] [Full Text] [Related]

  • 60. [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 25; 31(1):74-7. PubMed ID: 24510568
    [Abstract] [Full Text] [Related]

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