Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria
Author:
Publisher
Wiley
Subject
Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1754.2006.00909.x/fullpdf
Reference20 articles.
1. Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität.
2. Preliminary Communication
3. Monogenic traits are not simple: lessons from phenylketonuria
4. In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations
5. Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria
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1. Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis;Orphanet Journal of Rare Diseases;2021-06-03
2. Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments;Frontiers in Psychiatry;2019-09-10
3. Phenylketonuria Scientific Review Conference: State of the science and future research needs;Molecular Genetics and Metabolism;2014-06
4. The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness;JIMD Reports;2013
5. Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients;Molecular Genetics and Metabolism;2011-09
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