A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism
Authors:
- Philippe M. CampeauPCPhilippe M. Campeau
- Charles R. ScriverCSCharles R. Scriver
- John J. MitchellJMJohn J. Mitchell
- 1 September 2008
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 95 (1-2) , 11-16
Abstract
No abstract availableKeywords
This publication has 44 references indexed in Scilit:
- Correction of Murine PKU Following AAV-mediated Intramuscular Expression of a Complete Phenylalanine Hydroxylating SystemMolecular Therapy, 2008
- ThePAH gene, phenylketonuria, and a paradigm shiftHuman Mutation, 2007
- Newborn screening: After the thrill is goneMolecular Genetics and Metabolism, 2007
- The human disease networkProceedings of the National Academy of Sciences, 2007
- Phenylketonuria: Dietary and therapeutic challengesJournal of Inherited Metabolic Disease, 2007
- Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanineJournal of Inherited Metabolic Disease, 2007
- HMDB: the Human Metabolome DatabaseNucleic Acids Research, 2007
- The incidence of inherited metabolic disorders in the West Midlands, UKArchives of Disease in Childhood, 2006
- Disorders of carnitine transport and the carnitine cycleAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2006
- Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disordersJournal of Inherited Metabolic Disease, 2006