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Journal Abstract Search

176 related items for PubMed ID: 30001213

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  • 23. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002; 60(2):165-71. PubMed ID: 11937441
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  • 27. Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
    Sato H, Uematsu M, Endo W, Nakayama T, Kobayashi T, Hino-Fukuyo N, Sakamoto O, Shintaku H, Kure S.
    Brain Dev; 2014 Mar; 36(3):268-71. PubMed ID: 23660475
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  • 28. Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations.
    Foroozani H, Abiri M, Salehpour S, Bagherian H, Sharifi Z, Alaei MR, Khatami S, Azadmeh S, Setoodeh A, Rejali L, Rohani F, Zeinali S.
    JIMD Rep; 2015 Mar; 21():123-8. PubMed ID: 26006720
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  • 31. Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.
    Wang X, Wang Y, Ma D, Zhang Z, Li Y, Yang P, Sun Y, Jiang T.
    Orphanet J Rare Dis; 2021 May 12; 16(1):214. PubMed ID: 33980295
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  • 34. BH4-deficient hyperphenylalaninemia in Russia.
    Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV.
    PLoS One; 2021 May 12; 16(4):e0249608. PubMed ID: 33822819
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  • 35. Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.
    Zhang W, Zhou Z, Li X, Huang Y, Li T, Lin Y, Shao Y, Hu H, Liu H, Liu L.
    Neurosci Lett; 2017 Mar 22; 644():48-54. PubMed ID: 28087438
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  • 36. Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.
    Wang X, He Y, Jiang Y, Feng X, Zhang G, Xia Z, Zhou Y.
    Clin Chim Acta; 2019 Nov 22; 498():161-166. PubMed ID: 31445982
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