Related references
Note: Only part of the references are listed.Deubiquitinase USP19 enhances phenylalanine hydroxylase protein stability and its enzymatic activity
Neha Sarodaya et al.
CELL BIOLOGY AND TOXICOLOGY (2023)
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies
Nastassja Himmelreich et al.
MOLECULAR GENETICS AND METABOLISM (2021)
Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness
Huey-Fen Chen et al.
CHILDREN-BASEL (2021)
A noncoding RNA modulator potentiates phenylalanine metabolism in mice
Yajuan Li et al.
SCIENCE (2021)
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Thomas Opladen et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia
Neha Sarodaya et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth
Francesca Manzoni et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
Sven F. Garbade et al.
GENETICS IN MEDICINE (2019)
Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)
Vibeke M. Bruinenberg et al.
PLOS ONE (2019)
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations
Rasmus Scheller et al.
HUMAN MUTATION (2019)
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria
Nastassja Himmelreich et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options
Muhammad Wasim et al.
BIOCHEMICAL GENETICS (2018)
New protein structures provide an updated understanding of phenylketonuria
Eileen K. Jaffe
MOLECULAR GENETICS AND METABOLISM (2017)
The complete European guidelines on phenylketonuria: diagnosis and treatment
A. M. J. van Wegberg et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Key European guidelines for the diagnosis and management of patients with phenylketonuria
Francjan J. van Spronsen et al.
LANCET DIABETES & ENDOCRINOLOGY (2017)
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
Nan Shen et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Phenylketonuria Scientific Review Conference: State of the science and future research needs
Kathryn M. Camp et al.
MOLECULAR GENETICS AND METABOLISM (2014)
A new model for allosteric regulation of phenylalanine hydroxylase: Implications for disease and therapeutics
Eileen K. Jaffe et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2013)
Phenylalanine hydroxylase: Function, structure, and regulation
Marte I. Flydal et al.
IUBMB LIFE (2013)
Dynamic dissociating homo-oligomers and the control of protein function
Trevor Selwood et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2012)
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
Nenad Blau et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Dominant versus recessive: Molecular mechanisms in metabolic disease
Johannes Zschocke
JOURNAL OF INHERITED METABOLIC DISEASE (2008)