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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

Retricted access

Other

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

Free access

Other

First published 2001-09

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

Journal of Medical Screening

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

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

Retricted access

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

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

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

Free access

Research article

First published 2007-11

Treating Phenylketonuria: A Single Centre Experience

M Giovannini, E Riva, E Salvatici [...]

Journal of International Medical Research

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Other

First published 2011-2

Correspondence on ‘‘Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation’’

Marcela Vela-Amieva, Isabel Ibarra-González, Cynthia Fernández-Lainez [...]

Journal of Child Neurology

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