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Title
Phenylketonuria
Authors
Keywords
-
Journal
Nature Reviews Disease Primers
Volume 7, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-05-20
DOI
10.1038/s41572-021-00267-0
References
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Note: Only part of the references are listed.- Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing
- (2021) Robert A. Kaiser et al. PLoS One
- Protein Substitutes in PKU; Their Historical Evolution
- (2021) Anne Daly et al. Nutrients
- Approaching altered inhibitory control in phenylketonuria: A functional MRI study with a Go‐NoGo task in young female adults
- (2020) Benedikt Sundermann et al. EUROPEAN JOURNAL OF NEUROSCIENCE
- Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU.
- (2020) Shawn E. Christ et al. NEUROPSYCHOLOGY
- Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
- (2020) Kimber van Vliet et al. Orphanet Journal of Rare Diseases
- Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria
- (2020) Iris Scala et al. Nutrients
- The Genetic Landscape and Epidemiology of Phenylketonuria
- (2020) Alicia Hillert et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
- (2020) Barbara K. Burton et al. MOLECULAR GENETICS AND METABOLISM
- Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH
- (2020) Seemin S. Ahmed et al. Molecular Therapy-Methods & Clinical Development
- Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study
- (2020) Annemarie Klimek et al. ANNALS OF NUTRITION AND METABOLISM
- A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency
- (2020) Daelyn Y. Richards et al. MOLECULAR GENETICS AND METABOLISM
- An Observational Study Evaluating the Introduction of a Prolonged-Release Protein Substitute to the Dietary Management of Children with Phenylketonuria
- (2020) Anita MacDonald et al. Nutrients
- Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples
- (2020) Cristina Romani et al. Nutrients
- A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing
- (2020) Erik A. Koppes et al. JCI Insight
- Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers
- (2019) Neil Smith et al. MOLECULAR GENETICS AND METABOLISM
- The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: a systematic review
- (2019) Alessandro P. Burlina et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria
- (2019) Andrea Pilotto et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates
- (2019) Xuling Zhu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency
- (2019) Jingsong Cao et al. MOLECULAR THERAPY
- Clinical characterization of tremor in patients with phenylketonuria
- (2019) Francesca Nardecchia et al. MOLECULAR GENETICS AND METABOLISM
- The first European guidelines on phenylketonuria: its usefulness and implications for BH 4 responsiveness testing
- (2019) Roeland A.F. Evers et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines
- (2019) Vincenzo Leuzzi et al. JOURNAL OF MEDICAL GENETICS
- Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia
- (2019) Bijina Balakrishnan et al. MOLECULAR THERAPY
- Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency
- (2019) Brian Truong et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Emotional health in early-treated adults with phenylketonuria (PKU): Relationship with cognitive abilities and blood phenylalanine
- (2019) Liana Palermo et al. JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY
- Neurological manifestations in adults with phenylketonuria: new cases and review of the literature
- (2019) Paul Jaulent et al. JOURNAL OF NEUROLOGY
- Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels
- (2019) Cristina Romani et al. Orphanet Journal of Rare Diseases
- Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis
- (2019) Fatma Ilgaz et al. Nutrients
- Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
- (2019) Danique van Vliet et al. Nutrients
- Assessment of a Mobile App by Adolescents and Young Adults With Cystic Fibrosis: Pilot Evaluation
- (2019) Isa Rudolf et al. JMIR mHealth and uHealth
- Language processing and executive functions in early treated adults with phenylketonuria (PKU)
- (2018) Sara De Felice et al. COGNITIVE NEUROPSYCHOLOGY
- Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
- (2018) Sven F. Garbade et al. GENETICS IN MEDICINE
- Large neutral amino acid supplementation as an alternative to the phenylalanine-restricted diet in adults with phenylketonuria: evidence from adult Pah-enu2 mice
- (2018) Danique van Vliet et al. JOURNAL OF NUTRITIONAL BIOCHEMISTRY
- The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients
- (2018) A. Bartus et al. METABOLIC BRAIN DISEASE
- A new therapy prevents intellectual disability in mouse with phenylketonuria
- (2018) Tiziana Pascucci et al. MOLECULAR GENETICS AND METABOLISM
- Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial
- (2018) Cary O. Harding et al. MOLECULAR GENETICS AND METABOLISM
- The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study
- (2018) Stephan C.J. Huijbregts et al. MOLECULAR GENETICS AND METABOLISM
- Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria
- (2018) Harvey L. Levy et al. MOLECULAR GENETICS AND METABOLISM
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- (2018) Nastassja Himmelreich et al. MOLECULAR GENETICS AND METABOLISM
- Hippocampal microglia modifications in C57Bl/6 Pahenu2 and BTBR Pahenu2 phenylketonuria (PKU) mice depend on the genetic background, irrespective of disturbed sleep patterns
- (2018) Els van der Goot et al. NEUROBIOLOGY OF LEARNING AND MEMORY
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- (2018) François Maillot et al. AMERICAN JOURNAL OF CLINICAL NUTRITION
- Development of a synthetic live bacterial therapeutic for the human metabolic disease phenylketonuria
- (2018) Vincent M Isabella et al. NATURE BIOTECHNOLOGY
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- (2018) Danique van Vliet et al. Orphanet Journal of Rare Diseases
- Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus
- (2018) Polina Gundorova et al. PLoS One
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- (2018) R. Feldmann et al. MOLECULAR GENETICS AND METABOLISM
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- (2018) Lukas Villiger et al. NATURE MEDICINE
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- (2018) Lei Jiang et al. NATURE MEDICINE
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- (2018) Soumi Gupta et al. EBioMedicine
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- (2017) A Pinto et al. EUROPEAN JOURNAL OF CLINICAL NUTRITION
- Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
- (2017) Francjan J van Spronsen et al. JOURNAL OF MEDICAL GENETICS
- Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
- (2017) Rianne Jahja et al. NEUROPSYCHOLOGY
- Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.
- (2017) Liana Palermo et al. NEUROPSYCHOLOGY
- The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.
- (2017) Cristina Romani et al. NEUROPSYCHOLOGY
- Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients
- (2017) Ania C. Muntau et al. Orphanet Journal of Rare Diseases
- Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
- (2017) Ding An et al. Cell Reports
- Issues with European guidelines for phenylketonuria – Authors' reply
- (2017) Francjan J van Spronsen et al. Lancet Diabetes & Endocrinology
- Issues with European guidelines for phenylketonuria
- (2017) Peter Burgard et al. Lancet Diabetes & Endocrinology
- Key European guidelines for the diagnosis and management of patients with phenylketonuria
- (2017) Francjan J van Spronsen et al. Lancet Diabetes & Endocrinology
- Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model
- (2016) Danique van Vliet et al. AMERICAN JOURNAL OF CLINICAL NUTRITION
- Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria
- (2016) Deborah A. Bilder et al. DEVELOPMENTAL NEUROPSYCHOLOGY
- Phenylketonuria: Direct and indirect effects of phenylalanine
- (2016) Gudrun Schlegel et al. EXPERIMENTAL NEUROLOGY
- DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH enu2 mouse model of phenylketonuria
- (2016) S.F. Dobrowolski et al. MOLECULAR GENETICS AND METABOLISM
- Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
- (2016) Nan Shen et al. MOLECULAR GENETICS AND METABOLISM
- Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria
- (2016) Shawn E. Christ et al. MOLECULAR GENETICS AND METABOLISM
- High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU)
- (2016) Shelley R. Winn et al. MOLECULAR GENETICS AND METABOLISM
- Psychiatric disorders in adolescent and young adult patients with phenylketonuria
- (2016) Filippo Manti et al. MOLECULAR GENETICS AND METABOLISM
- The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
- (2016) Karen Anjema et al. Orphanet Journal of Rare Diseases
- Glycomacropeptide is a prebiotic that reduces Desulfovibrio bacteria, increases cecal short-chain fatty acids, and is anti-inflammatory in mice
- (2015) Emily A. Sawin et al. AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
- Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia
- (2015) Urh Groselj et al. CLINICAL BIOCHEMISTRY
- Newborn screening blood spot analysis in the UK: influence of spot size, punch location and haematocrit
- (2015) AJ Lawson et al. JOURNAL OF MEDICAL SCREENING
- Altered DNA methylation in PAH deficient phenylketonuria
- (2015) Steven F. Dobrowolski et al. MOLECULAR GENETICS AND METABOLISM
- Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study
- (2015) Francesca Nardecchia et al. MOLECULAR GENETICS AND METABOLISM
- Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
- (2015) Annet M Bosch et al. Orphanet Journal of Rare Diseases
- Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires
- (2015) Antoine Regnault et al. Orphanet Journal of Rare Diseases
- Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria
- (2014) Chiara Cazzorla et al. BMC PUBLIC HEALTH
- Phenylalanine hydroxylase deficiency: diagnosis and management guideline
- (2014) GENETICS IN MEDICINE
- Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
- (2014) Rani H. Singh et al. GENETICS IN MEDICINE
- Lentiviral Hematopoietic Stem Cell Gene Therapy in Inherited Metabolic Disorders
- (2014) Gerard Wagemaker HUMAN GENE THERAPY
- Phenotypic Reversion of Fair Hair upon Gene Therapy of the Phenylketonuria Mice
- (2014) Beat Thöny et al. HUMAN GENE THERAPY
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- (2014) K. Horling et al. HUMAN MOLECULAR GENETICS
- Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pahenu2 mice
- (2014) Luigia Rossi et al. JOURNAL OF CONTROLLED RELEASE
- Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU)
- (2014) Cary O. Harding et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
- (2014) François Feillet et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism
- (2014) Francesca Rosini et al. JOURNAL OF NEUROLOGY
- Neurocognitive Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria
- (2014) Rianne Jahja et al. JOURNAL OF PEDIATRICS
- Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
- (2014) Nicola Longo et al. LANCET
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- (2014) Dorothy K. Grange et al. MOLECULAR GENETICS AND METABOLISM
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- (2013) Nenad Blau Expert Opinion on Drug Metabolism & Toxicology
- Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride
- (2013) Teresa D Douglas et al. Health and Quality of Life Outcomes
- A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation
- (2013) Can Ficicioglu et al. Journal of Clinical Neurology
- Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents
- (2013) Eva Thimm et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2013) A.M. Lammardo et al. MOLECULAR GENETICS AND METABOLISM
- Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study
- (2013) Serwet Demirdas et al. MOLECULAR GENETICS AND METABOLISM
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- (2013) Thomas Opladen et al. MOLECULAR GENETICS AND METABOLISM
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- (2013) Ben Pode-Shakked et al. MOLECULAR GENETICS AND METABOLISM
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- (2013) J. Weglage et al. MOLECULAR GENETICS AND METABOLISM
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- (2013) Martijn J de Groot et al. Orphanet Journal of Rare Diseases
- Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study
- (2013) S. Keil et al. PEDIATRICS
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- (2012) Raphaël Teissier et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2012) Tiziana Pascucci et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2012) B. Ziesch et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2012) Lihi Adler-Abramovich et al. Nature Chemical Biology
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- (2011) G Cotugno et al. ACTA PAEDIATRICA
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- (2011) Hiroya Yagi et al. JOURNAL OF GENE MEDICINE
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- (2011) Yoshiyuki Okano et al. JOURNAL OF HUMAN GENETICS
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- (2010) Søren W. Gersting et al. HUMAN MOLECULAR GENETICS
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- (2010) Diego Andolina et al. INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
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- (2010) Jean-Louis Dhondt JOURNAL OF INHERITED METABOLIC DISEASE
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- (2010) Renaud Schoemans et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2010) Amber E. ten Hoedt et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2008) Eva Simon et al. Health and Quality of Life Outcomes
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- (2008) M. Bik-Multanowski et al. JOURNAL OF INHERITED METABOLIC DISEASE
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