Works matching DE "PHENYLKETONURIA"

Results: 1068

Metabolomics and Lipidomics Explore Phenotype-Specific Molecular Signatures for Phenylketonuria.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 15, p. 7171, doi. 10.3390/ijms26157171

By:

Şahiner, Buket Yurteri;
Dursun, Ali;
Gülbakan, Basri

Publication type:

Article

The Gut Mycobiome and Nutritional Status in Paediatric Phenylketonuria: A Cross-Sectional Pilot Study.

Published in:

Nutrients, 2025, v. 17, n. 15, p. 2405, doi. 10.3390/nu17152405

By:

Ostrowska, Malgorzata;
Komoń-Janczara, Elwira;
Mikoluc, Bozena;
Iłowiecka, Katarzyna;
Jarczak, Justyna;
Zagórska, Justyna;
Zambrzycka, Paulina;
Turroni, Silvia;
Szczerba, Hubert

Publication type:

Article

Multicenter study on long-term growth in patients with phenylketonuria.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03946-3

By:

Stanescu, S.;
Belanger-Quintana, A.;
Rocha, J. C.;
Almeida, M. F.;
Ahring, K.;
Dokoupil, K.;
Lammardo, A. M.;
van Dam, E.;
Muriel, A.;
MacDonald, A.;
GokmenOzel, H.;
Robert, M.

Publication type:

Article

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03702-7

By:

Balci, Mehmet Cihan;
Kor, Deniz;
Yildiz, Yilmaz;
Karaca, Meryem;
Bulut, Fatma Derya;
Kahraman, Ayca Burcu;
Yesil, Alihan;
Burgac, Ezgi;
Ciki, Kismet;
Selamioglu, Arzu;
Koseci, Burcu;
Durmus, Asli;
Kaplan, Irem;
Kara, Esra;
Mungan, Halise Neslihan;
Sivri, Serap;
Gokcay, Gulden Fatma;
Tokatli, Aysegul;
Demirkol, Mubeccel;
Coskun, Turgay

Publication type:

Article

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03702-7

By:

Balci, Mehmet Cihan;
Kor, Deniz;
Yildiz, Yilmaz;
Karaca, Meryem;
Bulut, Fatma Derya;
Kahraman, Ayca Burcu;
Yesil, Alihan;
Burgac, Ezgi;
Ciki, Kismet;
Selamioglu, Arzu;
Koseci, Burcu;
Durmus, Asli;
Kaplan, Irem;
Kara, Esra;
Mungan, Halise Neslihan;
Sivri, Serap;
Gokcay, Gulden Fatma;
Tokatli, Aysegul;
Demirkol, Mubeccel;
Coskun, Turgay

Publication type:

Article

Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency.

Published in:

Biomedical Reports, 2025, v. 23, n. 3, p. N.PAG, doi. 10.3892/br.2025.2029

By:

Fathallah, Rajaa;
Al-Rashed, Khadeeja;
Arafat, Alaa;
Awwad, Hanan;
Maraqa, Latifa;
El-Khateeb, Mohammed;
Shboul, Mohammad

Publication type:

Article

甘肃地区1 159例苯丙酮尿症患儿基因型与干预策略分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 7, p. 808, doi. 10.7499/j.issn.1008-8830.2502040

By:

张钏;
张培;
周秉博;
王兴;
郑雷;
李修晶;
郭金仙;
陈丕亮;
惠玲;
达振强;
闫有圣

Publication type:

Article

Anesthetic management of a strabismus patient with phenylketonuria.

Published in:

2004

By:

Kulkarni, Pradeep R.

Publication type:

Letter

Anesthetic management of a strabismus patient with phenylketonuria.

Published in:

2004

By:

Dal, Didem

Publication type:

Letter

Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah<sup>enu2</sup> mice.

Published in:

Journal of Gene Medicine, 2003, v. 5, n. 11, p. 984, doi. 10.1002/jgm.432

By:

Cary O. Harding;
Mark Neff;
Kelly Jones;
Krzysztof Wild;
Jon A. Wolff

Publication type:

Article

The molecular basis of phenylalanine hydroxylase deficiency in Croatia (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #586 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/586.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9115

By:

Johannes Zschocke;
Astrid Preusse;
Vladimir Sarnavka;
Ksenija Fumic;
Duško Mardešic;
Georg F. Hoffmann;
Ivo Baric

Publication type:

Article

The molecular basis of phenylketonuria in Latvia (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #585 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/585.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9114

By:

N. Pronina;
S. Giannattasio;
P. Lattanzio;
R. Lugovska;
P. Vevere;
A. Kornejeva

Publication type:

Article

The molecular basis of phenylketonuria in Lithuania (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #584 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/584.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9113

By:

J. Kasnauskiene;
S. Giannattasio;
P. Lattanzio;
L. Cimbalistiene;
V. Kučinskas

Publication type:

Article

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #587 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/587.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9116

By:

Christa Aulehla-Scholz;
Helmut Heilbronner

Publication type:

Article

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 401, doi. 10.1002/humu.10202

By:

T.B. Nga Ly;
Verena Peters;
K. Michael Gibson;
Michael Liesert;
Wolfgang Buckel;
Bridget Wilcken;
Kevin Carpenter;
Regina Ensenauer;
Georg F. Hoffmann;
Matthias Mack

Publication type:

Article

PAHdb 2003: What a locus-specific knowledgebase can do (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 333, doi. 10.1002/humu.10200

By:

Charles R. Scriver;
Mélanie Hurtubise;
David Konecki;
Manyphong Phommarinh;
Lynne Prevost;
Heidi Erlandsen;
Ray Stevens;
Paula J. Waters;
Shannon Ryan;
David McDonald;
Christineh Sarkissian

Publication type:

Article

A role for overdominant selection in phenylketonuria? Evidence from molecular data (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205

By:

Michael Krawczak;
Johannes Zschocke

Publication type:

Article

Phenylketonuria: Genotypephenotype correlations based on expression analysis of structural and functional mutations in PAH (For the PKU special issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 370, doi. 10.1002/humu.10198

By:

Angel L. Pey;
Lourdes R. Desviat;
Alejandra Gámez;
Magdalena Ugarte;
Belén Pérez

Publication type:

Article

Phenylketonuria mutations in Europe (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 345, doi. 10.1002/humu.10192

By:

Johannes Zschocke

Publication type:

Article

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: Insights from in vitro expression (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 357, doi. 10.1002/humu.10197

By:

Paula J. Waters

Publication type:

Article

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195

By:

Orna Tighe;
Donncha Dunican;
Belen Perez;
Lourdes Ruiz Desviat;
Magdalena Ugarte;
Vaidutis Kučinskas;
Per Knappskog;
Eileen Treacy;
Eileen Naughten;
Linda Tyfield;
Susan Byck;
Charles R. Scriver;
Philip D. Mayne;
David T. Croke

Publication type:

Article

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiencyFor the PKU Special IssueOnline Citation: Human Mutation, Mutation in Brief #588 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/588.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 400, doi. 10.1002/humu.9117

By:

M. Lindner;
R. Steinfeld;
P. Burgard;
A. Schulze;
E. Mayatepek;
J. Zschocke

Publication type:

Article

Mutational spectrum in German patients with phenylalanine hydroxylase deficiencyFor the PKU Special IssueOnline Citation: Human Mutation, Mutation in Brief #587 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/587.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9116

By:

Christa Aulehla?Scholz;
Helmut Heilbronner

Publication type:

Article

The molecular basis of phenylalanine hydroxylase deficiency in CroatiaFor the PKU Special IssueOnline Citation: Human Mutation, Mutation in Brief #586 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/586.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9115

By:

Johannes Zschocke;
Astrid Preusse;
Vladimir Sarnavka;
Ksenija Fumic;
Duško Mardešic;
Georg F. Hoffmann;
Ivo Baric

Publication type:

Article

The molecular basis of phenylketonuria in LatviaFor the PKU Special IssueOnline Citation: Human Mutation, Mutation in Brief #585 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/585.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9114

By:

N. Pronina;
S. Giannattasio;
P. Lattanzio;
R. Lugovska;
P. Vevere;
A. Kornejeva

Publication type:

Article

A role for overdominant selection in phenylketonuria? Evidence from molecular dataFor the PKU Special Issue.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205

By:

Michael Krawczak;
Johannes Zschocke

Publication type:

Article

PAHdb 2003: What a locus?specific knowledgebase can doFor the PKU Special Issue.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 333, doi. 10.1002/humu.10200

By:

Charles R. Scriver;
Mélanie Hurtubise;
David Konecki;
Manyphong Phommarinh;
Lynne Prevost;
Heidi Erlandsen;
Ray Stevens;
Paula J. Waters;
Shannon Ryan;
David McDonald;
Christineh Sarkissian

Publication type:

Article

The molecular basis of phenylketonuria in LithuaniaFor the PKU Special IssueOnline Citation: Human Mutation, Mutation in Brief #584 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/584.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9113

By:

J. Kasnauskiene;
S. Giannattasio;
P. Lattanzio;
L. Cimbalistiene;
V. Ku?inskas

Publication type:

Article

Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAHFor the PKU special issue.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 370, doi. 10.1002/humu.10198

By:

Angel L. Pey;
Lourdes R. Desviat;
Alejandra Gámez;
Magdalena Ugarte;
Belén Pérez

Publication type:

Article

How PAH gene mutations cause hyper?phenylalaninemia and why mechanism matters: Insights from in vitro expressionFor the PKU Special Issue.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 357, doi. 10.1002/humu.10197

By:

Paula J. Waters

Publication type:

Article

Phenylketonuria mutations in EuropeFor the PKU Special Issue.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 345, doi. 10.1002/humu.10192

By:

Johannes Zschocke

Publication type:

Article

Genetic diversity within the R408W phenylketonuria mutation lineages in EuropeFor the PKU Special Issue.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195

By:

Orna Tighe;
Donncha Dunican;
Charles O'Neill;
Giorgio Bertorelle;
Diane Beattie;
Colin Graham;
Johannes Zschocke;
Francesco Cali;
Valentino Romano;
Eva Hrabincova;
Libor Kozak;
Marina Nechyporenko;
Ludmilla Livshits;
Per Guldberg;
Monika Jurkowska;
Cezary Zekanowski;
Belen Perez;
Lourdes Ruiz Desviat;
Magdalena Ugarte;
Vaidutis Ku?inskas

Publication type:

Article

Study of Phenylalanine NIR Spectra for Phenylketonuria Determination.

Published in:

Journal of Applied Spectroscopy, 2020, v. 87, n. 6, p. 1179, doi. 10.1007/s10812-021-01127-1

By:

Dekel, B. Z.;
Cohen, Y.;
Feldman, M.

Publication type:

Article

The Prevalence of Phenylketonuria in Iran: A Systematic Review and Metaanalysis.

Published in:

2024

By:

Faraji, Samira;
Abolhassani, Mohammad Hassan;
Nematy, Mohsen;
Norouzy, Abdolreza

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

GENETIC LANDSCAPE OF PHENYLKETONURIA IN SERBIA.

Published in:

Genetics & Applications, 2024, p. 41

By:

Kristel, Klaassen;
Sara, Stanković;
Maja, Đorđević Milošević;
Božica, Kecman;
Marina, Andjelkovic;
Anita, Skakić;
Vesna, Spasovski;
Milena, Ugrin;
Jovana, Komazec;
Marina, Parezanović;
Nikola, Jocić;
Nina, Stevanović;
Sonja, Pavlovic;
Maja, Stojiljković

Publication type:

Article

Psychosocial burden of inflammatory bowel disease in adolescents and young adults.

Published in:

Internal Medicine Journal, 2021, v. 51, n. 12, p. 2027, doi. 10.1111/imj.15034

By:

Halloran, Jessica;
McDermott, Brett;
Ewais, Tatjana;
Begun, Jakob;
Karatela, Shamshad;
d'Emden, Helen;
Corias, Christian;
Denny, Simon

Publication type:

Article

Protocol for psychosocial screening of adolescents and young adults with chronic illness.

Published in:

Internal Medicine Journal, 2019, v. 49, n. 9, p. 1138, doi. 10.1111/imj.14211

By:

d'Emden, Helen;
McDermott, Brett;
Poulson, Kellee;
McGahan, Greg

Publication type:

Article

The Adult Phenylketonuria (PKU) Gut Microbiome.

Published in:

Microorganisms, 2021, v. 9, n. 3, p. 530, doi. 10.3390/microorganisms9030530

By:

Mancilla, Viviana J.;
Mann, Allison E.;
Zhang, Yan;
Allen, Michael S.;
Parkar, Shanthi G.

Publication type:

Article

Carrier Rates of Phenylketonuria, Biotinidase Deficiency and Cystic Fibrosis in Turkey.

Published in:

Gazi Medical Journal, 2023, v. 34, n. 4, p. 419, doi. 10.12996/gmj.2023.85

By:

Gerik-Celebi, Hamide Betul;
Koc, Altug

Publication type:

Article

Assessing Phenylalanine Blood Level in Children With Phenylketonuria in Southern Khorasan Province and Determining the Affecting Social and Demographic Factors.

Published in:

Journal of Pediatrics Review, 2022, v. 10, n. 4, p. 349, doi. 10.32598/jpr.10.4.1005.1

By:

Chahkandi, Tayebeh;
Bijari, Bita;
Laeen, Niloofar Hamidi;
Shaban, Sayeh;
Jafarabadi, Emad Asgari

Publication type:

Article

Assessing Phenylalanine Blood Level in Children With Phenylketonuria in Southern Khorasan Province and Determining the Affecting Social and Demographic Factors.

Published in:

Journal of Pediatrics Review, 2022, v. 10, n. 3, p. 349, doi. 10.32598/jpr.10.4.1005.1

By:

Chahkandi, Tayebeh;
Bijari, Bita;
Laeen, Niloofar Hamidi;
Shaban, Sayeh;
Jafarabadi, Emad Asgari

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

Let's play our part in the screening programme.

Published in:

2006

By:

Clift-Matthews, Victoria

Publication type:

Editorial

Therapeutic implication of L-phenylalanine aggregation mechanism and its modulation by D-phenylalanine in phenylketonuria.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep03875

By:

Singh, Virender;
Rai, Ratan Kumar;
Arora, Ashish;
Sinha, Neeraj;
Thakur, Ashwani Kumar

Publication type:

Article

Vitamin B12 and Folate in Adherent and Non-Adherent Individuals with Phenylketonuria: A Cross-Sectional Study, Systematic Review, and Meta-Analysis.

Published in:

Metabolites (2218-1989), 2025, v. 15, n. 7, p. 438, doi. 10.3390/metabo15070438

By:

Bokayeva, Kamila;
Jamka, Małgorzata;
Walkowiak, Dariusz;
Duś-Żuchowska, Monika;
Kałużny, Łukasz;
Wichłacz-Trojanowska, Natalia;
Chrobot, Agnieszka;
Mozrzymas, Renata;
Sultanova, Gulnara;
Herzig, Karl-Heinz;
Walkowiak, Jarosław

Publication type:

Article

Executive Functions and Long-Term Metabolic Control in Adults with Phenylketonuria (PKU).

Published in:

Metabolites (2218-1989), 2025, v. 15, n. 3, p. 197, doi. 10.3390/metabo15030197

By:

Tomm, Anne;
Thiele, Alena G.;
Rohde, Carmen;
Schlögl, Haiko;
Kiess, Wieland;
Beblo, Skadi

Publication type:

Article

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

Published in:

Metabolites (2218-1989), 2024, v. 14, n. 9, p. 479, doi. 10.3390/metabo14090479

By:

Weerd, Jorine C. van der;
Wegberg, Annemiek M. J. van;
Boer, Theo S.;
Engelke, Udo F. H.;
Coene, Karlien L. M.;
Wevers, Ron A.;
Bakker, Stephan J. L.;
Blaauw, Pim de;
Groen, Joost;
Spronsen, Francjan J. van;
Heiner-Fokkema, M. Rebecca

Publication type:

Article

Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots.

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 6, p. 677, doi. 10.3390/metabo13060677

By:

Leal-Witt, María Jesús;
Rojas-Agurto, Eugenia;
Muñoz-González, Manuel;
Peñaloza, Felipe;
Arias, Carolina;
Fuenzalida, Karen;
Bunout, Daniel;
Cornejo, Verónica;
Acevedo, Alejandro

Publication type:

Article

Creatine Levels in Patients with Phenylketonuria and Mild Hyperphenylalaninemia: A Pilot Study.

Published in:

Life (2075-1729), 2021, v. 11, n. 5, p. 425, doi. 10.3390/life11050425

By:

Verduci, Elvira;
Carbone, Maria Teresa;
Fiori, Laura;
Gualdi, Claudia;
Banderali, Giuseppe;
Carducci, Claudia;
Leuzzi, Vincenzo;
Biasucci, Giacomo;
Zuccotti, Gian Vincenzo;
Lamponi, Stefania

Publication type:

Article