Mapping the functional landscape of frequentphenylalanine hydroxylase(PAH) genotypes promotes personalised medicine in phenylketonuria
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mapping the functional landscape of frequentphenylalanine hydroxylase(PAH) genotypes promotes personalised medicine in phenylketonuria
Authors
Keywords
-
Journal
JOURNAL OF MEDICAL GENETICS
Volume 52, Issue 3, Pages 175-185
Publisher
BMJ
Online
2015-01-17
DOI
10.1136/jmedgenet-2014-102621
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Phenylalanine hydroxylase deficiency: diagnosis and management guideline
- (2014) GENETICS IN MEDICINE
- Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
- (2014) Ania C. Muntau et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria
- (2013) Caroline Heintz et al. HUMAN MUTATION
- Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes
- (2013) Maureen Cleary et al. MOLECULAR GENETICS AND METABOLISM
- Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study
- (2013) S. Keil et al. PEDIATRICS
- Oxidative Stress in Phenylketonuria: What is the Evidence?
- (2011) Graziela S. Ribas et al. CELLULAR AND MOLECULAR NEUROBIOLOGY
- The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
- (2011) M. Staudigl et al. HUMAN MOLECULAR GENETICS
- Up to date knowledge on different treatment strategies for phenylketonuria
- (2011) Amaya Bélanger-Quintana et al. MOLECULAR GENETICS AND METABOLISM
- Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
- (2011) Nenad Blau et al. MOLECULAR GENETICS AND METABOLISM
- Pah enu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo
- (2010) Søren W. Gersting et al. HUMAN MOLECULAR GENETICS
- Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
- (2010) Ania C. Muntau et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Phenylketonuria
- (2010) Nenad Blau et al. LANCET
- Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
- (2010) Steven F. Dobrowolski et al. MOLECULAR GENETICS AND METABOLISM
- Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study
- (2009) Friedrich K. Trefz et al. JOURNAL OF PEDIATRICS
- Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
- (2009) Iva Karačić et al. MOLECULAR GENETICS AND METABOLISM
- The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro
- (2009) Maja Stojiljkovic et al. PROTEIN JOURNAL
- Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability
- (2008) Søren W. Gersting et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
- (2008) Phillip Lee et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Dominant versus recessive: Molecular mechanisms in metabolic disease
- (2008) Johannes Zschocke JOURNAL OF INHERITED METABOLIC DISEASE
- Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
- (2007) Marcel R. Zurflüh et al. HUMAN MUTATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now