Charles R. Scriver

1. Phenylalanine hydroxylase deficiency
   2011/05/06 by John J. Mitchell, Yannis J. Trakadis, Yannis Trakadis +1 · 5 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Biochemical and Molecular Research #Folate and B Vitamins Research #Metabolism and Genetic Disorders
2. ThePAH gene, phenylketonuria, and a paradigm shift
   2007/01/01 by Charles R. Scriver · 4 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Folate and B Vitamins Research #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology
3. Garrod's Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008
   2008/10/01 by Charles R. Scriver · 1 citation
   Biochemistry, Genetics and Molecular Biology · #Amino Acid Enzymes and Metabolism #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology
4. PAHdb 2003: What a locus-specific knowledgebase can do
   2003/03/19 by Charles R. Scriver, M�lanie Hurtubise, David Konecki +10 · 2 citations
   Biochemistry, Genetics and Molecular Biology · #Biochemical and Molecular Research #Metabolism and Genetic Disorders #RNA and protein synthesis mechanisms