Works matching DE "PHENYLKETONURIA"

Results: 1048

Simple steps to achieve harmonisation and standardisation of dried blood spot phenylalanine measurements and facilitate consistent management of patients with phenylketonuria.

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 7, p. 1336, doi. 10.1515/cclm-2024-1367

By:

Carling, Rachel S.;
Barclay, Zoe;
Cantley, Nathan;
Ghansah, Nana;
Hogg, Sarah L.;
Horman, Alistair;
Moat, Stuart J.;
Cowen, Simon;
Hopley, Chris;
Deaves, Chloe;
Whyte, Emily

Publication type:

Article

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria.

Published in:

Children, 2025, v. 12, n. 5, p. 541, doi. 10.3390/children12050541

By:

Nunes, Ana Jaqueline;
Franceschetto, Bianca Fasolo;
da Gama, Lisiane;
Poloni, Soraia;
Refosco, Lilia Farret;
Tonon, Tassia;
Monteiro, Vaneisse;
Tresbach, Rafael Hencke;
Sperb-Ludwig, Fernanda;
Maillot, François;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

Treatment resistance in a child with autism spectrum disorder who has a late phenylketonuria diagnosis.

Published in:

2013

By:

Ugur, Cagatay;
Gurkan, Cihat Kagan

Publication type:

Abstract

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Recombinant expression analysis of natural and synthetic bovine alpha-casein in Escherichia coli.

Published in:

Applied Microbiology & Biotechnology, 2000, v. 54, n. 5, p. 671, doi. 10.1007/s002530000435

By:

Goda, S. K.;
Sharman, A. F.;
Yates, M.;
Mann, N.;
Carr, N.;
Minton, N. P.;
Brehm, J. K.

Publication type:

Article

Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.

Published in:

Amino Acids, 2012, v. 42, n. 5, p. 1765, doi. 10.1007/s00726-011-0892-4

By:

Kanzelmeyer, Nele;
Tsikas, Dimitrios;
Chobanyan-Jürgens, Kristine;
Beckmann, Bibiana;
Vaske, Bernhard;
Illsinger, Sabine;
Das, Anibh;
Lücke, Thomas

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

THE EFFECT OF APPLYING OREM SELF-CARE MODEL ON QUALITY OF LIFE OF THE MOTHERS HAVING CHILDREN WITH PHENYLKETONURIA.

Published in:

Journal of Urmia Nursing & Midwifery Faculty (2228-6411), 2014, v. 12, n. 10, p. 69

By:

Salehi, Sh.;
Ziaeirad, M.;
Ruzbehi Babady, M.;
Fayazi, S.

Publication type:

Article

Demographic Features of Phenylketonuria (PKU) Patients, Sharkia Governorate, Egypt.

Published in:

Zagazig University Medical Journal, 2025, v. 31, p. 214, doi. 10.21608/zumj.2024.282204.3325

By:

Mokhtar, Wesam A.;
Selim, Nermen Abdelmonaem;
Abdelbaset, Mona Tarek;
Mohamed, Soma Abdallah

Publication type:

Article

Evaluation of Metabolic Disorders in Pediatric Department at Zagazig University Hospital.

Published in:

Zagazig University Medical Journal, 2023, v. 29, n. 2, p. 442, doi. 10.21608/zumj.2021.72829.2196

By:

Elsayyad, Esraa H.;
Beshir, Mohamed R.;
Emam, Ahmed

Publication type:

Article

THE EFFECT OF MOTIVATION ON NURSE PERFORMANCE IN MODERATE WITH NURSE CREDENTIALS AT PKU MUHAMMADIYAH KUTOWINANGUN Hospital PAN ERA FOR COVID-19.

Published in:

Eduvest: Journal Of Universal Studies, 2022, v. 2, n. 9, p. 1728, doi. 10.36418/eduvest.v2i9.578

By:

Sugiarta, Rio Dimas;
Arofiati, Fitri;
Maria Rosa, Elsye

Publication type:

Article

Irreversible neurological effects of late diagnosis phenylketonuria: A case presentation.

Published in:

International Journal of Medical Biochemistry, 2023, v. 6, n. 2, p. 133, doi. 10.14744/ijmb.2023.54376

By:

Gupta, Khyati;
Jain, Aviral;
Sawant, Vishal Dnyaneshwar;
Save, Sushma

Publication type:

Article

Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019.

Published in:

International Journal of Medical Biochemistry, 2022, v. 5, n. 1, p. 49, doi. 10.14744/ijmb.2021.44127

By:

Savli, Pelin;
Ersoy, Melike;
Guner, Abdullah Emre;
Tas, Ibrahim

Publication type:

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

Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 80, doi. 10.3390/ijns10040080

By:

El Janahi, Sara;
Filali, Mounir;
Boudar, Zakia;
Akhattab, Amina;
El Jaoudi, Rachid;
Al Idrissi, Najib;
Dini, Nouzha;
Nejjari, Chakib;
Yahyaoui, Raquel;
Lloyd-Puryear, Michele A.;
Ghazal, Hassan

Publication type:

Article

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 74, doi. 10.3390/ijns10040074

By:

Wong, Tsz Sum;
Wong, Sheila Suet Na;
Kwok, Anne Mei Kwun;
Wu, Helen;
Law, Hiu Fung;
Lam, Shirley;
Yeung, Matthew Chun Wing;
Chan, Toby Chun Hei;
Leung, Gordon;
Mak, Chloe Miu;
Belaramani, Kiran Moti;
Fung, Cheuk Wing

Publication type:

Article

Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 30, doi. 10.3390/ijns10020030

By:

Solis, Leire;
Van Coillie, Samya;
Bonham, James R.;
Hauck, Fabian;
Hammarström, Lennart;
Staal, Frank J. T.;
Lim, Bruce;
Pergent, Martine;
Prévot, Johan

Publication type:

Article

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 28, doi. 10.3390/ijns10020028

By:

Tang, Chengfang;
Li, Lixin;
Chen, Ting;
Li, Yulin;
Zhu, Bo;
Zhang, Yinhong;
Yin, Yifan;
Liu, Xiulian;
Huang, Cidan;
Miao, Jingkun;
Zhu, Baosheng;
Wang, Xiaohua;
Zou, Hui;
Han, Lianshu;
Feng, Jizhen;
Huang, Yonglan

Publication type:

Article

Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 12, doi. 10.3390/ijns10010012

By:

Bush, Lynn W.;
Levy, Harvey L.

Publication type:

Article

A Case of DNAJC12 -Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 7, doi. 10.3390/ijns10010007

By:

Donnelly, Colleen;
Estrella, Lissette;
Ginevic, Ilona;
Ganesh, Jaya

Publication type:

Article

Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 52, doi. 10.3390/ijns9030052

By:

McBride, David J.;
Fielding, Claire;
Newington, Taksina;
Vatsiou, Alexandra;
Fischl, Harry;
Bajracharya, Maya;
Thomson, Vicki S.;
Fraser, Louise J.;
Fujita, Pauline A.;
Becq, Jennifer;
Kingsbury, Zoya;
Ross, Mark T.;
Moat, Stuart J.;
Morgan, Sian

Publication type:

Article

Towards Achieving Equity and Innovation in Newborn Screening across Europe.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 31, doi. 10.3390/ijns8020031

By:

Sikonja, Jaka;
Groselj, Urh;
Scarpa, Maurizio;
la Marca, Giancarlo;
Cheillan, David;
Kölker, Stefan;
Zetterström, Rolf H.;
Kožich, Viktor;
Le Cam, Yann;
Gumus, Gulcin;
Bottarelli, Valentina;
van der Burg, Mirjam;
Dekkers, Eugenie;
Battelino, Tadej;
Prevot, Johan;
Schielen, Peter C. J. I.;
Bonham, James R.

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

Development of a mechanistic model to predict synthetic biotic activity in healthy volunteers and patients with phenylketonuria.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02183-1

By:

Charbonneau, Mark R.;
Denney, William S.;
Horvath, Nicholas G.;
Cantarella, Pasquale;
Castillo, Mary J.;
Puurunen, Marja K.;
Brennan, Aoife M.

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

Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China.

Published in:

JAMA Network Open, 2024, v. 7, n. 6, p. e2412886, doi. 10.1001/jamanetworkopen.2024.12886

By:

Wang, Bo;
Xia, Yanzhi;
Cheng, Mingyue;
Luo, Huili;
Xue, Luxi;
Gong, Anyue;
Liu, Xu;
Liao, Gaoqi;
Song, Jieping;
Ning, Kang

Publication type:

Article

Access to Dietary Treatment for Inborn Errors of Metabolism: You Do Not Get What You Do Not Pay For.

Published in:

2024

By:

Berry, Susan A.

Publication type:

Opinion