Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Discover the latest research on phenylketonuria here.

May 2, 2020
Review
Open Access

A Review on Electrochemical Sensors and Biosensors Used in Phenylalanine Electroanalysis

Sensors
Ancuta Dinu, Constantin Apetrei
April 30, 2020
Open Access

The first study of successful pregnancies in Chinese patients with Phenylketonuria

BMC Pregnancy and Childbirth
Lin WangMing Shen
July 1, 2020

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up

Molecular Genetics and Metabolism
Barbara K BurtonPAL-002 and PAL-004 Investigators
May 20, 2020

Body fat percentage in adolescents with phenylketonuria and associated factors

Molecular Genetics and Metabolism Reports
Giovanna Caliman CamattaAna Lúcia Pimenta Starling
April 14, 2020
Open Access

Health-related quality of life of parents of children with phenylketonuria in Tehran Province, Islamic Republic of Iran

Eastern Mediterranean Health Journal = La Revue De Santé De La Méditerranée Orientale = Al-Majallah Al-ṣiḥḥīyah Li-sharq Al-mutawassiṭ
Koorosh EtemadMansoureh Lotfi
July 2, 2020
Review
Open Access

PKU dietary handbook to accompany PKU guidelines

Orphanet Journal of Rare Diseases
Anita MacDonaldFrancjan J van Spronsen
June 28, 2020

Retinal nerve fibre layer thickness associates with phenylketonuria control and cognition

Journal of Medical Genetics
Jan Krzysztof NowakJarosław Walkowiak
April 19, 2020

Animal Model Contributions to Congenital Metabolic Disease

Advances in Experimental Medicine and Biology
Corinna A Moro, Wendy Hanna-Rose
April 30, 2020

Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire

Molecular Genetics and Metabolism Reports
András Gellért BartaPéter Reismann
June 11, 2020
Open Access

Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia

Endocrine Connections
Mojca Zerjav TansekMagdalena Avbelj Stefanija
April 8, 2020

Assessment of Anthropometric Indices in Patients with Phenylketonuria

Iranian Journal of Child Neurology
Marjan ShakibaAsieh Mosallanejad
May 13, 2020
Open Access

Food insecurity in females with phenylketonuria

JIMD Reports
Kathryn E CoakleyRani H Singh
July 1, 2020
Open Access

Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe

Nutrients
Kimber van VlietM Rebecca Heiner-Fokkema
June 12, 2020
Open Access

Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU)

Molecular Frontiers Journal
Cary O Harding
May 3, 2020
Open Access

Development of an inventory to assess perceived barriers related to PKU treatment

Journal of Patient-reported Outcomes
Katia Irie TeruyaIda Vanessa Doederlein Schwartz

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