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32 resultsUpdated October 25, 2026
1

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

2

Estado nutricional en errores innatos del metabolismo de las proteínas. Estudio caso-control

Anales de Pediatría 101(5) (2024)

Isidro Robredo García; Paula Grattarola; Patricia Correcher Medina; Fátima Abu-Sharif Bohigas; Verónica Vélez García; Isidro Vitoria Miñana; Cecilia Martínez Costa

3

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

4

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

5

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

6

Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria

Nutrients 16(19) (2024)

Mehmet Cihan Balci; Meryem Karaca; Dilek Gunes; Huseyin Kutay Korbeyli; Arzu Selamioglu; Gulden Gokcay

7

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

Nutrients 14(4) (2022)

Anne Daly; Alex Pinto; Sharon Evans; Anita MacDonald

8

Co-Occurrence of Two Rare Diseases: A Child with Phenylketonuria and WNT1 Osteoporosis

Hormone Research in Paediatrics 99(3) (2024)

Artemis Doulgeraki; Fan Wang; Anastasia Skouma; Eleana Petropoulou; Symeon Tournis; Alice Costantini; Outi Mäkitie

9

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

Molecular Genetics and Metabolism Reports 14 (2018)

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

10

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

Nutrients 16(12) (2024)

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

11

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

Nutrition Research 36(1) (2016)

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

12

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

Hemoglobin 45(1) (2021)

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

13

Protein status of people with phenylketonuria: a scoping review protocol

BMJ Open 11(9) (2021)

Sarah Firman; Radha Ramachandran; Kevin Whelan; Oliver C Witard; Majella O’Keeffe

14

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

Metabolites 15(7) (2025)

Panagiota Markopoulou; Artemis Doulgeraki; Arsinoi Koutroumpa; Georgios Polyzois; Helen Athanasopoulou; Christina Kanaka-Gantenbein; Tania Siahanidou

15

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

16

Protein status in phenylketonuria: A scoping review

Clinical Nutrition 41(4) (2022)

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

17

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 Bunout; Verónica Cornejo

18

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

Scientific Reports 10(1) (2020)

Hui-Ling Weng; Feng-Jung Yang; Pey-Rong Chen; Wuh-Liang Hwu; Ni-Chung Lee; Yin-Hsiu Chien

19

Nutritional status in patients with protein metabolism disorders. Case-control study

Anales de Pediatría (English Edition) 101(5) (2024)

Isidro Robredo García; Paula Grattarola; Patricia Correcher Medina; Fátima Abu-Sharif Bohigas; Verónica Vélez García; Isidro Vitoria Miñana; Cecilia Martínez Costa

20

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

European Journal of Pediatrics 176(6) (2017)

Artemis Doulgeraki; Argyri Petrocheilou; Glykeria Petrocheilou; George Chrousos; Stavros-Eleftherios Doudounakis; Athanasios G. Kaditis

21

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

Nutrients 15(24) (2023)

Luis M. 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

22

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 Rasmussen; Janne Meedon Hermansen; Olivia Welle Fjellbirkeland; Allan Meldgaard Lund; Mette Cathrine Ørngreen

23

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; Alvaro Reischak-Oliveira; Terry G.J. Derks; Francjan J. van Spronsen; Carlos Severo Dutra-Filho; Ida Vanessa Doederlein Schwartz

24

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

Children 12(2) (2025)

Dana-Teodora Anton-Păduraru; Felicia Trofin; Adina Chis; Lucia Maria Sur; Violeta Streangă; Dana Elena Mîndru; Olivia Simona Dorneanu; Diana Păduraru; Eduard Vasile Nastase; Romana Vulturar

25

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)

C. Leiva; P. Bravo; C. Arias; J.F. Cabello; M.J. Leal-Witt; F. Salazar; V. Cornejo

26

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 Coakley; Teresa Douglas; Rani Singh

27

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

International Journal of Endocrinology and Metabolism 13(4) (2015)

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

28

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

Molecular Genetics and Metabolism Reports 6 (2016)

Priscila Nicolao Mazzola; Tatiele Nalin; Kamila Castro; Margreet van Rijn; Terry G.J. Derks; Ingrid D.S. Perry; Alberto Scofano Mainieri; Ida Vanessa D. Schwartz

29

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

30

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 Balci; Meryem Karaca; Alihan Yesil; Arzu Selamioglu; Huseyin Kutay Korbeyli; Asli Durmus; Belkis Ak; Tugba Kozanoglu; Ilknur Hacioglu; Gulden Fatma Gokcay

31

European guidelines on diagnosis and treatment of phenylketonuria: First revision

Molecular Genetics and Metabolism 145(2) (2025)

A.M.J. van Wegberg; A. MacDonald; K. Ahring; A. Bélanger-Quintana; S. Beblo; N. Blau; A.M. Bosch; A. Burlina; J. Campistol; T. Coşkun; F. Feillet; M. Giżewska; S.C. Huijbregts; V. Leuzzi; F. Maillot; A.C. Muntau; J.C. Rocha; C. Romani; F. Trefz; F.J. van Spronsen