Ania C. Muntau
- The Genetic Landscape and Epidemiology of Phenylketonuria
2020/07/14 by Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana +57 · 31 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Amino Acid Enzymes and Metabolism #Amino acid #Biology #Compound heterozygosity #Folate and B Vitamins Research #Gene #Genetics #Genotype #Hyperphenylalaninemia #Internal medicine #Medicine #Metabolism and Genetic Disorders #Phenotype #Phenylalanine #Phenylalanine hydroxylase #Phenylketonurias
- Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability
2008/06/06 by Søren W. Gersting, Kristina Kemter, Kristina F. Kemter +7 · 26 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Neuroscience · #Biology #Chemistry #Function (biology) #Genetic Neurodegenerative Diseases #Genetics #Instability #Mechanics #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology #Physics
- The complete European guidelines on phenylketonuria: diagnosis and treatment
2017/10/12 by Annemiek M. J. van Wegberg, Anita MacDonald, Kirsten Ahring +16 · 3 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolism and Genetic Disorders #Diet and metabolism studies #Mitochondrial Function and Pathology
- Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data
2019/07/22 by K. F. Trefz, Ania C. Muntau, KM Kohlscheen +10 · 1 citation
Biochemistry, Genetics and Molecular Biology · Pharmacology, Toxicology and Pharmaceutics · #Metabolism and Genetic Disorders #Genomics and Rare Diseases #Pharmacogenetics and Drug Metabolism