Works matching Phenylketonuria

Results: 2477

Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study.

Published in:

2016

By:

Witalis, Ewa;
Mikoluc, Bożena;
Motkowski, Radoslaw;
Szyszko, Justyna;
Chrobot, Agnieszka;
Didycz, Bozena;
Lange, Agata;
Mozrzymas, Renata;
Milanowski, Andrzej;
Nowacka, Maria;
Piotrowska-Depta, Mariola;
Romanowska, Hanna;
Starostecka, Ewa;
Wierzba, Jolanta;
Skorniewska, Magdalena;
Wojcicka-Bartlomiejczyk, Barbara;
Gizewska, Maria;
Mikoluc, Bożena;
Wojcicka-Bartlomiejczyk, Barbara Iwona;
Polish Society of Phenylketonuria

Publication type:

journal article

Effects of A Phenylketonuria Camp on Knowledge and Attitudes of Adolescents with Phenylketonuria.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2021, v. 15, n. 2, p. 104, doi. 10.12956/tchd.812196

By:

BILGINER GURBUZ, Berrak;
KARABONCUK, Arda Yamac;
SIVRI, H. Serap

Publication type:

Article

Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.

Published in:

2017

By:

Jurecki, Elaina;
Cunningham, Amy;
Birardi, Vanessa;
Gagol, Grégory;
Acquadro, Catherine

Publication type:

journal article

International Survey on Phenylketonuria Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018

By:

Trampuž, Domen;
Schielen, Peter C. J. I.;
Zetterström, Rolf H.;
Scarpa, Maurizio;
Feillet, François;
Kožich, Viktor;
Tangeraas, Trine;
Drole Torkar, Ana;
Mlinarič, Matej;
Perko, Daša;
Remec, Žiga Iztok;
Lampret, Barbka Repič;
Battelino, Tadej;
van Spronsen, Francjan J.;
Bonham, James R.;
Grošelj, Urh

Publication type:

Article

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.

Published in:

2019

By:

Yıldız, Yılmaz;
Sivri, Hatice Serap

Publication type:

journal article

FENILCETONÚRIA: UMA REVISÃO DE LITERATURA.

Published in:

Electronic Journal of Pharmacy / Revista Eletrônica de Farmácia, 2014, v. 11, n. 4, p. 27, doi. 10.5216/ref.v11i4.31258

By:

Porto Ascenso Rosa, Ruy Roberto

Publication type:

Article

The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review.

Published in:

Journal of Pediatrics Review, 2021, v. 9, n. 2, p. 83, doi. 10.32598/jpr.9.2.826.2

By:

Mojibi, Nastaran;
Ghazanfari-Sarabi, Shabnam;
Bagher Hashemi-Soteh, Seyed Mohammad

Publication type:

Article

Maternal phenylketonuria: the French survey.

Published in:

2004

By:

Feillet, François;
Abadie, Véronique;
Berthelot, Jacques;
Maurin, Nicole;
Ogier, Hélène;
Vidailhet, Michel;
Farriaux, Jean-Pierre;
De Parscau, Loic;
Feillet, François;
Abadie, Véronique;
Ogier, Hélène

Publication type:

journal article

Diffusion MRI findings in phenylketonuria.

Published in:

2003

By:

Sener, R. N.

Publication type:

journal article

Evaluation of primary health care nurses' knowledge and neonatal screening performance for phenylketonuria in Alexandria.

Published in:

BMC Nursing, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12912-025-02719-4

By:

El-Samie Ismail, Esraa Mohammed Abd;
Elarousy, Wafaa Mohamed;
Badawe, Shaymaa Saeed Mohamed;
Abohadida, Rasha Mohamed

Publication type:

Article

Successful control of maternal phenylketonuria by tetrahydrobiopterin.

Published in:

2018

By:

Sakamoto, Osamu;
Arai‐Ichinoi, Natsuko;
Murayama, Kei;
Kure, Shigeo

Publication type:

Case Study

New challenges in management of phenylketonuria in pregnancy: a case report.

Published in:

2023

By:

Ugalde-Abiega, Beatriz;
Stanescu, Sinziana;
Belanger, Amaya;
Martinez-Pardo, Mercedes;
Arrieta, Francisco

Publication type:

Case Study

Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016.

Published in:

Acta Medica Iranica, 2018, v. 56, n. 1, p. 49

By:

Ganji, Foruzan;
Naseri, Hooshang;
Rostampour, Noushin;
Sedighi, Mozhde;
Lotfizadeh, Masoud

Publication type:

Article

Resonancia magnética nuclear de encéfalo en pacientes con fenilcetonuria diagnosticada tardíamente.

Published in:

Acta Pediatrica de Mexico, 2015, v. 36, n. 1, p. 9

By:

Jiménez-Pérez, Mario O.;
Gómez-Garza, Gilberto;
Ruiz-García, Matilde;
Fernández-Lainez, Cynthia;
Ibarra-González, Isabel;
Vela-Amieva, Marcela

Publication type:

Article

Serie de casos de fenilcetonuria clásica en Ecuador.

Published in:

Revista Mexicana de Pediatria, 2024, v. 91, n. 1, p. 24, doi. 10.35366/118505

By:

Herrera-Jaramillo, María Isabel;
Tello-Herrera, María Gabriela;
Tello-Herrera, María Belén;
Alarcón-Flores, María José

Publication type:

Article

OS IMPACTOS NA ALIMENTAÇÃO DE PACIENTES COM FENILCETONÚRIA: UMA REVISÃO DE LITERATURA.

Published in:

Brazilian Journal of Surgery & Clinical Research, 2024, v. 49, n. 2, p. 95

By:

FERREIRA CARVALHO, SARA;
NACIFE DOS REIS, GUSTAVO SELLES;
VILLELA SILVA, ANDRESSA;
LEAL DE SÁ MELO, JESSICA;
FRANCISCO DE SOUZA, RONNY

Publication type:

Article

Therapy compliance in children with phenylketonuria younger than 5 years: A cohort study.

Published in:

Advances in Clinical & Experimental Medicine, 2019, v. 28, n. 10, p. 1385, doi. 10.17219/acem/104536

By:

Walkowiak, Dariusz;
Bukowska-Posadzy, Anna;
Kałużny, Łukasz;
Ołtarzewski, Mariusz;
Staszewski, Rafał;
Musielak, Michał;
Walkowiak, Jarosław

Publication type:

Article

Porucha vývoje kostní hmoty -- potenciální komplikace fenylketonurie.

Published in:

General Practitioner / Praktický Lékař, 2011, v. 91, n. 8, p. 482

By:

ŽOFKOVÁI, I.;
BAYER, M.

Publication type:

Article

Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.

Published in:

Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 529, doi. 10.1111/pcmr.12695

By:

Arbesman, Joshua;
Ravichandran, Sairekha;
Funchain, Pauline;
Thompson, Cheryl L.

Publication type:

Article

The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study.

Published in:

2021

By:

Burgess, Nicholas M.;
Kelso, Wendy;
Malpas, Charles B.;
Winton-Brown, Toby;
Fazio, Timothy;
Panetta, Julie;
De Jong, Gerard;
Neath, Joanna;
Atherton, Sonny;
Velakoulis, Dennis;
Walterfang, Mark

Publication type:

journal article

Saccadic reaction time and ocular findings in phenylketonuria.

Published in:

2020

By:

Hopf, Susanne;
Nowak, Caroline;
Hennermann, Julia B.;
Schmidtmann, Irene;
Pfeiffer, Norbert;
Pitz, Susanne

Publication type:

journal article

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

Published in:

BMC Endocrine Disorders, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1472-6823-14-38

By:

Lucaccioni, Laura;
Schwahn, Bernd C.;
Donaldson, Malcolm;
Giacomozzi, Claudio

Publication type:

Article

Quantitative bacterial micro-assay for rapid detection of serum phenylalanine on dry blood-spots: application in phenylketonuria screening.

Published in:

Clinical Chemistry & Laboratory Medicine, 2006, v. 44, n. 1, p. 76, doi. 10.1515/CCLM.2006.015

By:

Vallian, Sadeq;
Moeini, Hassan

Publication type:

Article

Preparation of a Selective L-Phenylalanine Imprinted Polymer Implicated in Patients with Phenylketonuria.

Published in:

Iranian Journal of Medical Sciences, 2014, v. 39, n. 6, p. 552

By:

Najafizadeh, Parvaneh;
Ebrahimi, Soltan Ahmad;
Panjehshahin, Mohammad Reza;
Rezayat Sorkhabadi, Seyed Mahdi

Publication type:

Article

PHENYLKETONURIA AND READING AND WRITING SKILLS.

Published in:

Revista CEFAC, 2015, v. 17, n. 1, p. 143

By:

Lamônica, Dionísia Aparecida Cusin;
Gejão, Mariana Germano;
Anastácio-Pessan, Fernanda da Luz

Publication type:

Article

ALTERAÇÕES AUDITIVAS E FENILCETONÚRIA: UMA REVISÃO SISTEMÁTICA.

Published in:

Revista CEFAC, 2010, v. 12, n. 1, p. 140, doi. 10.1590/S1516-18462010000100019

By:

Mancini, Patrícia Cotta;
Starling, Ana Lúcia Pimenta;
Alves, Cláudia Fernanda Tolentino;
Martins, Thaís Maria da Mata;
Iório, Maria Cecília Martinelli

Publication type:

Article

Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride.

Published in:

Health & Quality of Life Outcomes, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1477-7525-11-218

By:

Douglas, Teresa D.;
Ramakrishnan, Usha;
Kable, Julie A.;
Singh, Rani H.

Publication type:

Article

Undiagnosed maternal phenylketonuria: own clinical experience and literature review.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2009, v. 22, n. 10, p. 943, doi. 10.1080/14767050902994697

By:

Bouchlariotou, Sofia;
Tsikouras, Panagiotis;
Maroulis, George

Publication type:

Article

Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria.

Published in:

Medical Principles & Practice, 2009, v. 19, n. 1, p. 46, doi. 10.1159/000252834

By:

Mazur, Artur;
Jarochowicz, Sabina;
Sykut-Cegielska, Jolanta;
Gradowska, Wanda;
Kwolek, Andrzej;
Ołtarzewski, Mariusz

Publication type:

Article

EVALUATION OF GROWTH IN LONG-TERM FOLLOW-UP IN INDIVIDUALS WITH PHENYLKETONURIA.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2025, v. 88, n. 1, p. 38, doi. 10.26650/IUITFD.1552678

By:

BALCI, Mehmet Cihan;
GÜVEN, Ayşe Gül;
KARACA, Meryem;
GÖKÇAY, Gülden

Publication type:

Article

Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice.

Published in:

Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00167

By:

Bruinenberg, Vibeke M.;
Gordijn, Marijke C. M.;
MacDonald, Anita;
van Spronsen, Francjan J.;
Van der Zee, Eddy A.

Publication type:

Article

بررسی عوامل مرتبط با بهزیستی روانشناختی والدین داراي فرزند مبتلا به فنیل کتونوري: یک مرور نظاممند

Published in:

Journal of Rafsanjan University of Medical Sciences, 2023, v. 22, n. 2, p. 191

By:

Habibi, Narges;
Narimani, Mohammad;
Aghajani, Saifullah;
Talari, Mohammad Baher

Publication type:

Article

Pharmacotherapy Options in the Management of Phenylketonuria.

Published in:

Clinical Medicine Insights: Therapeutics, 2011, n. 3, p. 327, doi. 10.4137/CMT.S6200

By:

Peters, Stacy;
Van Gilder, Deidra;
Dvoracek, Kyle;
Hegge, Karly A.

Publication type:

Article

A Neurological Evaluation of Adult Phenylketonuria in Northern Ireland.

Published in:

European Neurology, 1998, v. 39, n. 1, p. 38, doi. 10.1159/000007895

By:

McDonnell;
Esmonde;
Hadden;
Morrow

Publication type:

Article

Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters.

Published in:

PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0160892

By:

Yano, Shoji;
Moseley, Kathryn;
Fu, Xiaowei;
Azen, Colleen

Publication type:

Article

Adult-onset phenylketonuria with rapidly progressive dementia and parkinsonism.

Published in:

2016

By:

Tufekcioglu, Zeynep;
Cakar, Arman;
Bilgic, Basar;
Hanagasi, Hasmet;
Gurvit, Hakan;
Emre, Murat

Publication type:

journal article

Screening of three Mediterranean phenylketonuria mutations in Tunisian families.

Published in:

Journal of Genetics, 2012, v. 91, n. 1, p. 91, doi. 10.1007/s12041-012-0140-z

By:

KHEMIR, SAMEH;
SIALA, HAJER;
TAIEB, SAMEH;
CHERIF, WAFA;
AZZOUZ, HATEM;
KÉFI, RYM;
ABDELHAK, SONIA;
KHOUJA, NAZIHA;
TEBIB, NEJI;
MASSAOUD, TAIEB;
DRIDI, MARIE;
KAABACHI, NAZIHA

Publication type:

Article

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

Published in:

Eastern Mediterranean Health Journal, 2020, v. 26, n. 3, p. 331, doi. 10.26719/emhj.19.045

By:

Etemad, Koorosh;
Heidari, Alireza;
Setoodeh, Aria;
Shayeganrad, Amir;
Akhlaghi, Atoosa;
Azizi, Maryam;
Nejatbakhsh, Roya;
Beglar, Maryam Beheshti;
Lotfi, Mansoureh

Publication type:

Article

Medical Nutrition Therapy and Intestinal Microbiota in Phenylketonuria.

Published in:

Istanbul Gelisim University Journal of Health Sciences / İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi, 2024, n. 24, p. 1347, doi. 10.38079/igusabder.1425111

By:

DOĞANAY, Derya;
OLGUN, Sevde Nur

Publication type:

Article

A Case Report: Phenylketonuria in a oneyear-old child from India.

Published in:

2017

By:

Jha, Punam Kumari;
Chaudhary, Nalin;
Abhinav P.

Publication type:

Case Study

Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers.

Published in:

Current Medical Research & Opinion, 2024, v. 40, n. 6, p. 1007, doi. 10.1080/03007995.2024.2337662

By:

Rovelli, Valentina;
Dicintio, Annamaria;
Cazzorla, Chiara

Publication type:

Article

The effectiveness of mindful self-compassion training on difficulties in emotion regulation and cognitive flexibility of mothers of children with phenylketonuria.

Published in:

Current Psychology, 2024, v. 43, n. 13, p. 11891, doi. 10.1007/s12144-023-05297-3

By:

Habibi, Narges;
Yela, José Ramón;
Basharpoor, Sajjad;
Varzaneh, Abolfazl Hatami;
Narimani, Mohammad

Publication type:

Article

Neurovascular retinal impairment in early-treated adults with phenylketonuria.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1305984

By:

Buonamassa, Rosa;
Boscia, Giacomo;
Gaudiomonte, Marida;
Guerriero, Silvana;
Fischetto, Rita;
Montepara, Alfonso;
Grassi, Maria Oliva;
Pignataro, Maria Grazia;
Puzo, Pasquale;
Giancipoli, Ermete;
D'addario, Marina;
Alessio, Giovanni;
Boscia, Francesco;
Viggiano, Pasquale

Publication type:

Article

The Impact of Phenylketonuria on Body Composition in Adults.

Published in:

Annals of Nutrition & Metabolism, 2022, v. 78, n. 2, p. 98, doi. 10.1159/000520047

By:

Barta, András Gellért;
Becsei, Dóra;
Kiss, Erika;
Sumánszki, Csaba;
Simonová, Erika;
Reismann, Péter

Publication type:

Article

Identificación de un caso de fenilcetonuria a través del tamizaje neonatal.

Published in:

Boletín Médico del Hospital Infantil de México, 2008, v. 65, n. 4, p. 290

By:

Pereda-Torales, Luis;
Calcáneo-García, Jesús Alfonso;
Enríquez-Torrecilla, Rosaura;
Badillo-Báez, Elva Miriam;
Soler-Huerta, Elizabeth

Publication type:

Article

Secuelas neurológicas en tres pacientes con fenilcetonuria clásica diagnosticada tardíamente.

Published in:

2008

By:

Sánchez-Peña, Alejandra;
Martínez-de Villarreal, Laura;
Arteaga-Alcaraz, Georgina;
Torres-Sepúlveda, Rosario;
Marroquín-Escamilla, Alma Rosa;
Abrego-Moya, Valdemar;
Villarreal-Pérez, Zacarías;
Esmer-Sánchez, Carmen

Publication type:

Case Study

PHENYLKETONURIA IS NOT A RISK FACTOR FOR CHANGES OF INFLAMMATION STATUS AS ASSESSED BY INTERLEUKIN 6 AND INTERLEUKIN 8 CONCENTRATIONS.

Published in:

Acta Scientiarum Polonorum. Technologia Alimentaria, 2016, v. 15, n. 2, p. 221, doi. 10.17306/J.AFS.2016.2.22

By:

Mozrzymas, Renata;
Duś-Żuchowska, Monika;
Kałużny, Łukasz;
Wenska-Chyży, Ewa;
Walkowiak, Jarosław

Publication type:

Article

Reversible autistic features following dietary restriction in a recently diagnosed phenylketonuria case.

Published in:

2013

By:

Gundogdu, Ummugulsum;
Orengul, Cahit;
Benk, Fatma;
Arman, Ayse Rodopman

Publication type:

Abstract

Nutritional Assessment of Phenylketonuria Patients in Tehran.

Published in:

Journal of Nutrition, Fasting & Health, 2022, v. 10, p. 187

By:

Ahmadzadeh, Mina;
Sohrab, Golbon

Publication type:

Article

Protocolo para Garantia da Segurança Alimentar e Nutricional de Estudantes com Fenilcetonúria através da Pesquisa Translacional.

Published in:

Segurança Alimentar e Nutricional, 2023, v. 30, p. 1, doi. 10.20396/san.v30i00.8674027

By:

Gonçalves Siqueira, Cláudia;
de Castro Alves, Isabela Cristina;
Mayrink, Flávia Diniz;
Fernandes Batista de Amorim, Rivadávio

Publication type:

Article