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35 resultsUpdated October 23, 2026

European Guidelines on Diagnosis and Treatment of Phenylketonuria: First Revision

Springer eBooks 145(2) (2025)

Annemiek M. J. van Wegberg; Anita MacDonald; Kirsten Ahring; Amaya Bélanger-Quintana; Skadi Beblo; Nenad Blau; Annet Maria Bosch; Alessandro P. Burlina; Jaume Campistol; T. Coşkun; François Feillet; Maria Giżewska; Stephan C. J. Huijbregts; Vincenzo Leuzzi; F. Maillot; Ania Carolina Muntau; Júlio César Rocha; C. Romani; F. K. Trefz; Francjan J. van Spronsen

Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis

Nutrients 13(10) (2021)

Catarina Rodrigues; Alex Pinto; Ana Faria; Diana Teixeira; Annemiek M. J. van Wegberg; Kirsten Ahring; François Feillet; Conceição Calhau; Anita MacDonald; André Moreira-Rosário; Júlio César Rocha

Baseline Religion Involvement Predicts Subsequent Salivary Cortisol Levels Among Male But not Female Black Youth

Intern J Endocrinol Metab 13(4) (2015)

Shervin Assari; Maryam Moghani Lankarani; Mohammad Reza Malekahmadi; Cleopatra Howard Caldwell; Marc A. Zimmerman

Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet

Nutrients 15(13) (2023)

Eugenia Rojas-Agurto; María Jesús Leal-Witt; Carolina Arias; Juan Francisco Cabello; Daniel Carlos Bunout; Verónica Cornejo

The influence of parental food preference and neophobia on children with phenylketonuria (PKU)

Molecular Genetics and Metabolism Reports 14 (2017)

Sharon Evans; Anne Daly; Satnam Chahal; Catherine Ashmore; John MacDonald; Anita MacDonald

OVERWEIGHT AND ASSOCIATED FACTORS IN CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA: A SYSTEMATIC REVIEW

Revista Paulista de Pediatria 38 (2020)

Berilany dos Santos Sena; Maria Izabel Siqueira de Andrade; Ana Paula Ferreira da Silva; Keila Fernandes Dourado; Andressa Laís Ferreira Silva

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls

Molecular Genetics and Metabolism Reports 23 (2020)

Melissa Sailer; Gabriela Elizondo; Julie Martin; Cary O. Harding; Melanie B. Gillingham

Special Low Protein Foods in the UK: An Examination of Their Macronutrient Composition in Comparison to Regular Foods

Nutrients 12(6) (2020)

Georgina Wood; Sharon Evans; Kiri Pointon-Bell; Júlio César Rocha; Anita MacDonald

Glycomacropeptide in PKU—Does It Live Up to Its Potential?

Nutrients 14(4) (2022)

Anne Daly; Alex Pinto; Sharon Evans; Anita MacDonald

Current Insights into Nutritional Management of Phenylketonuria: An Update for Children and Adolescents

Children 12(2) (2025)

Dana-Teodora Anton-Păduraru; Felicia Trofin; Adina Chiş; Lucia Maria Sur; Violeta Ștreangă; Dana Elena Mîndru; Olivia Dorneanu; Diana Păduraru; Eduard Vasile Năstase; Romana Vulturar

Sex-Gender-Based Differences in Metabolic Diseases

Handbook of experimental pharmacology 282 (2023)

Ilaria Campesi; Margherita Ruoppolo; Flavia Franconi; Marianna Caterino; Michele Costanzo

Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency

Frontiers in Endocrinology 16 (2025)

Beatrice Hanusch; Anne Schlegtendal; Corinna Grasemann; Thomas Lücke; Kathrin Sinningen

Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency

Molecular Genetics and Metabolism 121(2) (2017)

Rati Jani; Kathryn E. Coakley; Teresa D. Douglas; Rani H. Singh

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

Molecular Genetics and Metabolism Reports 6 (2016)

Priscila Nicolao Mazzola; Tatiéle Nalin; Kamila Castro; Margreet van Rijn; Terry G. J. Derks; Ingrid Dalira Schweigert Perry; Alberto Scofano Mainieri; Ida Vanessa Döederlein Schwartz

Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response

Molecular Genetics and Metabolism Reports 5 (2015)

Priscila Nicolao Mazzola; Bruno Costa Teixeira; Gabriel Henrique Schirmbeck; Álvaro Reischak-Oliveira; Terry G. J. Derks; Francjan J. van Spronsen; Carlos Severo Dutra‐Filho; Ida Vanessa Döederlein Schwartz

Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food–based diets

Nutrition Research 36(1) (2015)

Katie Elizabeth Geiger; David M. Koeller; Cary O. Harding; Kathleen Huntington; Melanie B. Gillingham

Body composition and lung function in children with cystic fibrosis and meconium ileus

European Journal of Pediatrics 176(6) (2017)

Artemis E. Doulgeraki; Argyri Petrocheilou; Glykeria M. Petrocheilou; George Panagiotis Chrousos; Stavros E. Doudounakis; Athanasios G. Kaditis

Growth and Nutritional Status of Phenylketonuric Children and Adolescents

BMC Pediatrics 22(1) (2022)

Mina Ahmadzadeh; Golbon Sohrab; Mohammadreza Alaei; Hassan Eini‐Zinab; Behzad Mohammadpour Ahranjani; Samira Rastgoo; Zahra Namkhah

The Long-Term Impact of Preterm Birth on Metabolic Bone Profile and Bone Mineral Density in Childhood

Metabolites 15(7) (2025)

Παναγιώτα Μαρκοπούλου; Artemis E. Doulgeraki; Arsinoi Koutroumpa; Georgios Polyzois; Helen Athanasopoulou; Christina Kanaka‐Gantenbein; Tania Siahanidou

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

Scientific Reports 10(1) (2020)

Huiling Weng; Feng‐Jung Yang; Pey‐Rong Chen; Wuh‐Liang Hwu; Ni‐Chung Lee; Yin‐Hsiu Chien

Protein status in phenylketonuria: A scoping review

Clinical Nutrition 41(4) (2022)

Sarah J. Firman; Radha Ramachandran; Kevin Whelan; Oliver C. Witard; Majella M O'Keeffe

Protein status of people with phenylketonuria: a scoping review protocol

BMJ Open 11(9) (2021)

Sarah J. Firman; Radha Ramachandran; Kevin Whelan; Oliver C. Witard; Majella M O'Keeffe

Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria

Nutrients 16(19) (2024)

Mehmet Cihan Balcı; Meryem Karaca; Dilek Güneş; Huseyin Kutay Korbeyli; Arzu Selamioğlu; Gülden Gökçay

Ex Vivo Osteoclastogenesis from Peripheral Blood Mononuclear Cells Is Unchanged in Adults with Phenylketonuria, Regardless of Dietary Compliance

International Journal of Molecular Sciences 26(12) (2025)

Beatrice Hanusch; Anne Schlegtendal; Thomas Lücke; Kathrin Sinningen

25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias

Journal of Inborn Errors of Metabolism and Screening 9 (2021)

Cinthya Leiva; PAULINA BRAVO J; Carolina Arias; Juan Francisco Cabello; María Jesús Leal-Witt; Fernanda Rodrigues Salazar; Verónica Cornejo

Chronic Hemolysis May Adversely Affect Skeletal Health. A Cross-Sectional Study of a Pediatric Population

Hemoglobin 45(1) (2021)

Artemis E. Doulgeraki; Christine Fragodimitri; Helen Athanasopoulou; Kalliopi Drakaki; Fotis Karabatsos; Vasiliki Schiza; Jacqueline Youssef; Ioannis Monopolis; Antonia Chatziliami

Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with Phenylketonuria

Nutrients 15(24) (2023)

Luis Miguel Luengo Pérez; Mercedes Fernández-Bueso; Ana Ambrojo; Marta Guijarro; Ana Cristina Ferreira; Luís Pereira‐da‐Silva; André Moreira-Rosário; Ana Faria; Conceição Calhau; Anne Daly; Anita MacDonald; Júlio César Rocha

Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy

Journal of Pediatric Endocrinology and Metabolism 36(12) (2023)

Mehmet Cihan Balcı; Meryem Karaca; Alihan Yesil; Arzu Selamioğlu; Huseyin Kutay Korbeyli; Aslı Durmuş; Belkis Ak; Tuğba Kozanoğlu; İlknur Hacıoğlu; Gülden Gökçay

Morphofunctional Assessment beyond Malnutrition: Fat Mass Assessment in Adult Patients with Phenylketonuria—Systematic Review

Nutrients 16(12) (2024)

Luis Miguel Luengo Pérez; Mercedes Fernández-Bueso; Carlos Guzmán-Carmona; Ana López-Navia; Claudia García-Lobato

Body Composition and Bone Mineral Quality in Phenylketonuria: Influence of Pubertal Development

Journal of Endocrine Disorders 7(1) (2021)

Albina Tummolo; Maurizio Aricò; Rare Diseases Unit, Azienda Ospedaliero Universitaria Consorziale, Italy; Pesce S; Gary D. Paterno; Donatella De Giovanni; Fantasia ML; Maria Felicia Faienza; Livio Melpignano

Evaluations of exercise intolerance with cardiopulmonary exercise tests in a 24-year-old young male with obesity with tetrahydrobiopterin deficiency: A case report

Rehabilitation practice and science 2024(1) (2024)

Chun-Yu Chen; Shin‐Tsu Chang; Ko‐Long Lin; Mu-Hsun Wu

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria – a retrospective study

Orphanet Journal of Rare Diseases 20(1) (2025)

Lionesa Bahtiri; Christine Jørgensen; Kirsten Ahring; Helle Mätzke Rasmussen; Janne Meedon Hermansen; Olivia Fjellbirkeland; Allan Meldgaard Lund; Mette Cathrine Ørngreen