Literature DB >> 30504912

Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.

Shigeo Kure1, Haruo Shintaku2.   

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Year:  2018        PMID： 30504912     DOI： 10.1038/s10038-018-0529-5

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  15 in total

1.  The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.

Authors:  Friedrich K Trefz; Ania C Muntau; Florian B Lagler; Flavie Moreau; Jan Alm; Alberto Burlina; Frank Rutsch; Amaya Bélanger-Quintana; François Feillet
Journal:  JIMD Rep       Date:  2015-03-31

2.  Tetrahydrobiopterin and maternal PKU.

Authors:  Richard Koch; Kathryn Moseley; Flemming Guttler
Journal:  Mol Genet Metab       Date:  2005-12       Impact factor: 4.797

3.  Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.

Authors:  François Feillet; Ania C Muntau; François-Guillaume Debray; Amelie S Lotz-Havla; Alexandra Puchwein-Schwepcke; Ma'atem Béatrice Fofou-Caillierez; Francjan van Spronsen; Fritz Friedrich Trefz
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

Review 4.  Tetrahydrobiopterin biosynthesis, regeneration and functions.

Authors:  B Thöny; G Auerbach; N Blau
Journal:  Biochem J       Date:  2000-04-01       Impact factor: 3.857

5.  Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Authors:  S Kure; D C Hou; T Ohura; H Iwamoto; S Suzuki; N Sugiyama; O Sakamoto; K Fujii; Y Matsubara; K Narisawa
Journal:  J Pediatr       Date:  1999-09       Impact factor: 4.406

Review 6.  Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

Authors:  Leo J M Spaapen; M Estela Rubio-Gozalbo
Journal:  Mol Genet Metab       Date:  2003-02       Impact factor: 4.797

7.  Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.

Authors:  Haruo Shintaku; Shigeo Kure; Toshihiro Ohura; Yoshiyuki Okano; Misao Ohwada; Naruji Sugiyama; Nobuo Sakura; Ichiro Yoshida; Makoto Yoshino; Yoichi Matsubara; Ken Suzuki; Kikumaro Aoki; Teruo Kitagawa
Journal:  Pediatr Res       Date:  2003-12-17       Impact factor: 3.756

8.  Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Authors:  Shigeo Kure; Kenichi Sato; Kunihiro Fujii; Yoko Aoki; Yoichi Suzuki; Seiichi Kato; Yoichi Matsubara
Journal:  Mol Genet Metab       Date:  2004 Sep-Oct       Impact factor: 4.797

Review 9.  PAHdb 2003: what a locus-specific knowledgebase can do.

Authors:  Charles R Scriver; Mélanie Hurtubise; David Konecki; Manyphong Phommarinh; Lynne Prevost; Heidi Erlandsen; Ray Stevens; Paula J Waters; Shannon Ryan; David McDonald; Christineh Sarkissian
Journal:  Hum Mutat       Date:  2003-04       Impact factor: 4.878

10.  Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.

Authors:  Dorothy K Grange; Richard E Hillman; Barbara K Burton; Shoji Yano; Jerry Vockley; Chin-To Fong; Joellen Hunt; John J Mahoney; Jessica L Cohen-Pfeffer
Journal:  Mol Genet Metab       Date:  2014-03-12       Impact factor: 4.797
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  1 in total

1.  Sapropterin for phenylketonuria: A Japanese post-marketing surveillance study.

Authors:  Mina Tamura; Shizuka Seki; Yasuyuki Kakurai; Shuichi Chikada; Kento Wada
Journal:  Pediatr Int       Date:  2022-01       Impact factor: 1.617
  1 in total

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