Barbara K. Burton
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
2015/07/30 by Lot Snijders Blok, Lot Snijders Blok, Erik Madsen +123 · 30 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Psychology · #Biology #Congenital heart defects research #Gene #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Genetics #Genetics and Neurodevelopmental Disorders #Intellectual disability #Medicine #Mutation #Psychology #Signal transduction #Wnt signaling pathway
- 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
- Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria
2018/09/12 by Barbara K. Burton, Kyle Bradford Jones, Stephen D. Cederbaum +8 · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolism and Genetic Disorders #Genomics and Rare Diseases #Folate and B Vitamins Research
- The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus
2011/10/28 by Joseph Muenzer, Olaf Bodamer, Olaf A. Bodamer +12 · 1 citation
Medicine · #Glycogen Storage Diseases and Myoclonus #Lysosomal Storage Disorders Research #Salivary Gland Disorders and Functions
- Sapropterin
2008/02/29 by Barbara K. Burton, Santwana Kar, Peter Kirkpatrick +1 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Diet and metabolism studies #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology