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Journal Abstract Search

408 related items for PubMed ID: 12003346

  • 1. Disorders of tetrahydrobiopterin metabolism and their treatment.
    Shintaku H.
    Curr Drug Metab; 2002 Apr; 3(2):123-31. PubMed ID: 12003346
    [Abstract] [Full Text] [Related]

  • 2. [Biopterin and child neurologic disease].
    Shintaku H.
    No To Hattatsu; 2009 Jan; 41(1):5-10. PubMed ID: 19172809
    [Abstract] [Full Text] [Related]

  • 3. Disorders of biopterin metabolism.
    Longo N.
    J Inherit Metab Dis; 2009 Jun; 32(3):333-42. PubMed ID: 19234759
    [Abstract] [Full Text] [Related]

  • 4. 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; 27(9):870-8. PubMed ID: 16917893
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  • 5. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
    Himmelreich N, Blau N, Thöny B.
    Mol Genet Metab; 2021 Jun; 133(2):123-136. PubMed ID: 33903016
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  • 6. Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
    Khatami S, Dehnabeh SR, Zeinali S, Thöny B, Alaei M, Salehpour S, Setoodeh A, Rohani F, Hajivalizadeh F, Samavat A.
    JIMD Rep; 2017 Jun; 32():7-14. PubMed ID: 27246466
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  • 7. [Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
    Ye J, Qiu WJ, Han LS, Zhang HW, Zhou JD, Gao XL, Wang Y, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Apr; 46(4):281-5. PubMed ID: 19099731
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  • 10. Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.
    Nagatsu T, Ichinose H.
    Mol Neurobiol; 1999 Feb; 19(1):79-96. PubMed ID: 10321973
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  • 11. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].
    Ye J, Qiu WJ, Han LS, Zhou JD, Gao XL, Gu XF.
    Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb; 43(2):128-31. PubMed ID: 19534905
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  • 13. 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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  • 16. Differential diagnosis of tetrahydrobiopterin deficiency.
    Niederwieser A, Ponzone A, Curtius HC.
    J Inherit Metab Dis; 1985 Mar; 8 Suppl 1():34-8. PubMed ID: 3930839
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  • 18. Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
    Ponzone A, Guardamagna O, Dianzani I, Ponzone R, Ferrero GB, Spada M, Cotton RG.
    Pediatr Res; 1993 Feb; 33(2):125-8. PubMed ID: 8433887
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