Phenylalanine hydroxylase deficiency

2011/05/06 by John J. Mitchell, Yannis Trakadis, Yannis J. Trakadis +1 · 5 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biochemical and Molecular Research #Folate and B Vitamins Research #Metabolism and Genetic Disorders

paper · doi:10.1097/gim.0b013e3182141b48

openalex publication_date 2011/05/06 · crossref created 2011/05/06 · crossref issued 2011/08/01 · crossref published 2011/08/01 · crossref published-print 2011/08/01 · openalex created_date 2025/10/10 · crossref deposited 2025/10/22 · crossref indexed 2026/07/23 · openalex updated_date 2026/07/29

Citations

• PAHdb 2003: What a locus-specific knowledgebase can do
• Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
• ThePAH gene, phenylketonuria, and a paradigm shift
• Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene
• Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence

Cited by

• The complete European guidelines on phenylketonuria: diagnosis and treatment
• Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence
• Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria
• Newborn screening 50 years later: access issues faced by adults with PKU
• Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria
• Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective
• Phenylketonuria [wikipedia]