Literature DB >> 18327672

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU.

Nenad Blau.   

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Year:  2008        PMID： 18327672     DOI： 10.1007/s10545-007-9979-1

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

Review 1.  Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria.

Authors:  John R Burnett
Journal:  IDrugs       Date:  2007-11

2.  Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.

Authors:  Betina Fiege; Nenad Blau
Journal:  J Pediatr       Date:  2007-06       Impact factor: 4.406

3.  Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

Authors:  Harvey L Levy; Andrzej Milanowski; Anupam Chakrapani; Maureen Cleary; Philip Lee; Friedrich K Trefz; Chester B Whitley; François Feillet; Annette S Feigenbaum; Judith D Bebchuk; Heidi Christ-Schmidt; Alex Dorenbaum
Journal:  Lancet       Date:  2007-08-11       Impact factor: 79.321

4.  Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Authors:  Marcel R Zurflüh; Johannes Zschocke; Martin Lindner; François Feillet; Céline Chery; Alberto Burlina; Raymond C Stevens; Beat Thöny; Nenad Blau
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878
  4 in total
  11 in total

1.  Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.

Authors:  M L Couce; M D Bóveda; E Valerio; A Pérez-Muñuzuri; J M Fraga
Journal:  JIMD Rep       Date:  2011-09-06

2.  Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria.

Authors:  Rani H Singh; Meghan E Quirk
Journal:  Mol Genet Metab       Date:  2011-09-16       Impact factor: 4.797

3.  Development of an mRNA replacement therapy for phenylketonuria.

Authors:  Carlos G Perez-Garcia; Ramon Diaz-Trelles; Jerel Boyd Vega; Yanjie Bao; Marciano Sablad; Patty Limphong; Simon Chikamatsu; Hailong Yu; Wendy Taylor; Priya P Karmali; Kiyoshi Tachikawa; Padmanabh Chivukula
Journal:  Mol Ther Nucleic Acids       Date:  2022-02-28       Impact factor: 8.886

4.  New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride.

Authors:  Cary O Harding
Journal:  Biologics       Date:  2010-08-09

Review 5.  Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia.

Authors:  Mark Sanford; Gillian M Keating
Journal:  Drugs       Date:  2009       Impact factor: 9.546

6.  Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.

Authors:  Jytte Bieber Nielsen; Karin E Nielsen; Flemming Güttler
Journal:  J Inherit Metab Dis       Date:  2010-02       Impact factor: 4.982

7.  Effect of BH(4) supplementation on phenylalanine tolerance.

Authors:  A Burlina; N Blau
Journal:  J Inherit Metab Dis       Date:  2008-12-09       Impact factor: 4.982

8.  Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Authors:  Filipa Ferreira; Luísa Azevedo; Raquel Neiva; Carmen Sousa; Helena Fonseca; Ana Marcão; Hugo Rocha; Célia Carmona; Sónia Ramos; Anabela Bandeira; Esmeralda Martins; Teresa Campos; Esmeralda Rodrigues; Paula Garcia; Luísa Diogo; Ana Cristina Ferreira; Silvia Sequeira; Francisco Silva; Luísa Rodrigues; Ana Gaspar; Patrícia Janeiro; António Amorim; Laura Vilarinho
Journal:  Mol Genet Genomic Med       Date:  2021-01-19       Impact factor: 2.183

9.  Incidence of neonatal hyperphenylalaninemia in fars province, South iran.

Authors:  Hamdollah Karamifar; Mahtab Ordoei; Zohreh Karamizadeh; Gholam Hossein Amirhakimi
Journal:  Iran J Pediatr       Date:  2010-06       Impact factor: 0.364

10.  Tetrahydrobiopterin has a glucose-lowering effect by suppressing hepatic gluconeogenesis in an endothelial nitric oxide synthase-dependent manner in diabetic mice.

Authors:  Abulizi Abudukadier; Yoshihito Fujita; Akio Obara; Akiko Ohashi; Toru Fukushima; Yuichi Sato; Masahito Ogura; Yasuhiko Nakamura; Shimpei Fujimoto; Masaya Hosokawa; Hiroyuki Hasegawa; Nobuya Inagaki
Journal:  Diabetes       Date:  2013-05-06       Impact factor: 9.461
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