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First published 2011-2

Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation

Pascale E. Karam, Rose T. Daher, Lisbeth B. Moller [...]

Journal of Child Neurology

Open access

Review article

First published 2026

Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis

Tamás István Dóczi, Shailja Vaghela, George Dennis Obeng [...]

Sage Open Pediatrics

Free access

Research article

First published 2008-7

Use of Acute Hyperphenylalaninemia in Rhesus Monkeys to Examine Sensitivity and Stability of the l -[1- 11 C]Leucine Method for Measurement of Regional Rates of Cerebral Protein Synthesis with Pet

Carolyn B Smith, Kathleen C Schmidt, Shrinivas Bishu [...]

Journal of Cerebral Blood Flow & Metabolism

Free access

Research article

First published 2014-6

Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong

Hencher Han-chih LEE, Chloe Miu MAK, Grace Wing-Kit Poon [...]

Journal of Medical Screening

Retricted access

Research article

First published 1999-09

Mutations in Exon 3 of the PAH Gene Causing Mild Hyperphenylalaninemia

Cezary Zekanowski, Maria Nowacka, Maria Gizewska [...]

Genetic Testing and Molecular Biomarkers

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Other

First published 1997-02

Electromyographic Alterations in Hyperphenylalaninemia due to Dihydropteridine Reductase Deficiency

Enrico Zammarchi, Maria A. Donati, Elisabetta Pasquini [...]

Journal of Child Neurology

Open access

Research article

First published 2016

Newborn Screening for Phenylketonuria

Gustavo J. C. Borrajo

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Research article

First published 1993-02

Elevated Phenylalanine Concentrations In Benign Hyperphenylalaninemia from Evaporated Milk Feedings

Marvin E. Miller, Pamela Plumeau, Eileen Blakely

Clinical Pediatrics

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Other

First published 2001-09

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience

Journal of Medical Screening

Free access

First published 1999-12

Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study

Journal of Medical Screening

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