Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Top Cited Papers
- 1 February 2014
- journal article
- practice guideline
- Published by Elsevier BV in Genetics in Medicine
- Vol. 16 (2), 188-200
- https://doi.org/10.1038/gim.2013.157
Abstract
No abstract availableKeywords
This publication has 51 references indexed in Scilit:
- Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficienciesMolecular Genetics and Metabolism, 2011
- Follow up of phenylketonuria patientsMolecular Genetics and Metabolism, 2011
- Supporting the Health Care Transition From Adolescence to Adulthood in the Medical HomePEDIATRICS, 2011
- Significance of genotype in tetrahydrobiopterin‐responsive phenylketonuriaJournal of Inherited Metabolic Disease, 2008
- Nutritional management of PKU with glycomacropeptide from cheese wheyJournal of Inherited Metabolic Disease, 2008
- Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)Health and Quality of Life Outcomes, 2008
- ThePAH gene, phenylketonuria, and a paradigm shiftHuman Mutation, 2007
- The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuriaJournal of Inherited Metabolic Disease, 2006
- Behavior disturbance in 8-year-old children with early treated phenylketonuria: Report from the MRC/DHSS phenylketonuria registerThe Journal of Pediatrics, 1988
- New England Maternal PKU Project: Prospective study of untreated and treated pregnancies and their outcomesThe Journal of Pediatrics, 1987