Literature DB >> 21086047

Advances and challenges in phenylketonuria.

Cary O Harding, Nenad Blau.   

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Year:  2010        PMID： 21086047     DOI： 10.1007/s10545-010-9247-7

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


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  27 in total

1.  Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.

Authors:  C O Harding; M B Gillingham; K Hamman; H Clark; E Goebel-Daghighi; A Bird; D D Koeberl
Journal:  Gene Ther       Date:  2006-03       Impact factor: 5.250

Review 2.  Therapeutic liver repopulation for phenylketonuria.

Authors:  Cary O Harding; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2010-05-22       Impact factor: 4.982

Review 3.  National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

Authors: 
Journal:  Pediatrics       Date:  2001-10       Impact factor: 7.124

4.  Characterization of mutations at the mouse phenylalanine hydroxylase locus.

Authors:  J D McDonald; C K Charlton
Journal:  Genomics       Date:  1997-02-01       Impact factor: 5.736

5.  Pregnancy experiences in the woman with mild hyperphenylalaninemia.

Authors:  Harvey L Levy; Susan E Waisbren; Flemming Güttler; William B Hanley; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Felix de la Cruz; Colleen G Azen; Richard Koch
Journal:  Pediatrics       Date:  2003-12       Impact factor: 7.124

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

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

7.  Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.

Authors:  Angel L Pey; Belén Pérez; Lourdes R Desviat; Maria Angeles Martínez; Cristina Aguado; Heidi Erlandsen; Alejandra Gámez; Raymond C Stevens; Matthías Thórólfsson; Magdalena Ugarte; Aurora Martínez
Journal:  Hum Mutat       Date:  2004-11       Impact factor: 4.878

Review 8.  The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Authors:  Nenad Blau; Heidi Erlandsen
Journal:  Mol Genet Metab       Date:  2004-06       Impact factor: 4.797

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

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

10.  The phenylketonuria mouse model: a meeting review.

Authors:  J David McDonald; Maria Andriolo; Francesco Calì; Mario Mirisola; Stefano Puglisi-Allegra; Valentino Romano; Christineh N Sarkissian; Carolyn B Smith
Journal:  Mol Genet Metab       Date:  2002-08       Impact factor: 4.797
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  7 in total

1.  A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.

Authors:  Mary Lou Lindegren; Shanthi Krishnaswami; Tyler Reimschisel; Christopher Fonnesbeck; Nila A Sathe; Melissa L McPheeters
Journal:  JIMD Rep       Date:  2012-07-29

2.  Effects of a co-treatment with pyruvate and creatine on dendritic spines in rat hippocampus and posterodorsal medial amygdala in a phenylketonuria animal model.

Authors:  Eleonora Araújo Dos Reis; Elenara Rieger; Sthefanie Souza de Souza; Alberto Antonio Rasia-Filho; Clóvis Milton Duval Wannmacher
Journal:  Metab Brain Dis       Date:  2013-02-22       Impact factor: 3.584

Review 3.  Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino Acid-based medical foods for nutrition management of phenylketonuria.

Authors:  Sandra C van Calcar; Denise M Ney
Journal:  J Acad Nutr Diet       Date:  2012-08       Impact factor: 4.910

4.  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

5.  Phenylketonuria: nutritional advances and challenges.

Authors:  Marcello Giovannini; Elvira Verduci; Elisabetta Salvatici; Sabrina Paci; Enrica Riva
Journal:  Nutr Metab (Lond)       Date:  2012-02-03       Impact factor: 4.169

Review 6.  Bone health in phenylketonuria: a systematic review and meta-analysis.

Authors:  Serwet Demirdas; Katie E Coakley; Peter H Bisschop; Carla E M Hollak; Annet M Bosch; Rani H Singh
Journal:  Orphanet J Rare Dis       Date:  2015-02-15       Impact factor: 4.123

7.  The status of PAH gene-VNTR alleles and mini-haplotypes associations with PAH gene mutations in Iranian Kurdish PKU patients.

Authors:  Reza Alibakhshi; Keivan Moradi; Keyghobad Ghadiri
Journal:  Med J Islam Repub Iran       Date:  2019-08-26
  7 in total

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