Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia
- 12 October 2002
- journal article
- research article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 77 (3) , 260-266
- https://doi.org/10.1016/s1096-7192(02)00166-x
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Mental Illness in Mild PKU Responds to BiopterinMolecular Genetics and Metabolism, 2002
- Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic FindingsJournal of Inherited Metabolic Disease, 2002
- Treatable neurotransmitter deficiency in mild phenylketonuriaNeurology, 2001
- Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and MinihaplotypesHuman Heredity, 2001
- Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonatesJournal of Inherited Metabolic Disease, 2001
- Successful treatment of phenylketonuria with tetrahydrobiopterinEuropean Journal of Pediatrics, 2001
- Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyThe Journal of Pediatrics, 1999
- A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic PhenotypeAmerican Journal of Human Genetics, 1998
- Recommendations for a nomenclature system for human gene mutationsHuman Mutation, 1998
- Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype CorrelationsAmerican Journal of Human Genetics, 1997