Works matching DE "PHENYLKETONURIA"

Results: 1071

The relationship between working memory and anxiety in individuals with early treated phenylketonuria (PKU).

Published in:

2024

By:

Boland, Kelly M.;
Schoen, Meriah S.;
Singh, Rani H.;
Clocksin, Hayley E.;
Cissne, Mackenzie N.;
Christ, Shawn E.

Publication type:

Journal Article

Brazilian patients with phenylketonuria: Neuropsychological profile, correlation with metabolic measurements, and the importance of treatment adherence.

Published in:

2024

By:

Cardoso, Amanda Douat;
Morão, Cindy P. de Almeida B.;
Laurence, Paulo Guirro;
de Macedo, Elizeu Coutinho

Publication type:

Journal Article

Motor control and learning in individuals with early-treated phenylketonuria.

Published in:

2021

By:

Christ, Shawn E.;
Abbene, Emily E.;
Clocksin, Hayley E.;
Wegrzyn, Andrew K.

Publication type:

Journal Article

What school psychologists should know about phenylketonuria (PKU).

Published in:

2021, isbn. 978-1-4338-9500-5

By:

Paulman, Briana E.;
Maricle, Denise E.

Publication type:

Journal Article

Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU.

Published in:

2020

By:

Christ, Shawn E.;
Clocksin, Hayley E.;
Burton, Barbara K.;
Grant, Mitzie L.;
Waisbren, Susan;
Paulin, Marie-Claire;
Bilder, Deborah A.;
White, Desirée A.;
Saville, Christopher

Publication type:

Journal Article

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

Published in:

2017

By:

Jahja, Rianne;
Huijbregts, Stephan C. J.;
de Sonneville, Leo M. J.;
van der Meere, Jaap J.;
Legemaat, Amanda M.;
Bosch, Annet M.;
Hollak, Carla E. M.;
Rubio-Gozalbo, M. Estela;
Brouwers, Martijn C. G. J.;
Hofstede, Floris C.;
de Vries, Maaike C.;
Janssen, Mirian C. H.;
van der Ploeg, Ans T.;
Langendonk, Janneke G.;
van Spronsen, Francjan J.

Publication type:

Journal Article

The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.

Published in:

2017

By:

Romani, Cristina;
Palermo, Liana;
MacDonald, Anita;
Limback, Ellie;
Hall, S. Kate;
Geberhiwot, Tarekegn

Publication type:

Journal Article

Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.

Published in:

2017

By:

Palermo, Liana;
Geberhiwot, Tarekegn;
MacDonald, Anita;
Limback, Ellie;
Hall, S. Kate;
Romani, Cristina

Publication type:

Journal Article

Processing speed and executive abilities in children with phenylketonuria.

Published in:

2012

By:

Janos, Alicia L.;
Grange, Dorothy K.;
Steiner, Robert D.;
White, Desirée A.

Publication type:

Journal Article

Response monitoring in children with phenylketonuria.

Published in:

2009

By:

Araujo, Gabriel C.;
Christ, Shawn E.;
Steiner, Robert D.;
Grange, Dorothy K.;
Nardos, Binyam;
McKinstry, Robert C.;
White, Desirée A.

Publication type:

Journal Article

Cognitive functions and the antioxidant system in phenylketonuric patients.

Published in:

2008

By:

Gassió, Rosa;
Artuch, Rafael;
Vilaseca, Maria Antonia;
Fusté, Eugenia;
Colome, Roser;
Campistol, Jaume

Publication type:

Journal Article

Executive Functioning and Speed of Processing in Phenylketonuria.

Published in:

2005

By:

Channon, Shelley;
Mockler, Caroline;
Lee, Philip

Publication type:

Journal Article

Parent Reactions to Childhood Phenylketonuria.

Published in:

2005

By:

Lord, Bruce;
Wastell, Colin;
Ungerer, Judy

Publication type:

Journal Article

Executive Functioning, Memory, and Learning in Phenylketonuria.

Published in:

2004

By:

Channon, Shelley;
German, Elaine;
Cassina, Cristina;
Lee, Philip

Publication type:

Journal Article

Timing is everything: Executive functions in children exposed to elevated levels of phenylalanine.

Published in:

2003

By:

Antshel, Kevin M.;
Waisbren, Susan E.

Publication type:

Journal Article

Motor function under lower and higher controlled processing demands in early and continuously treated phenylketonuria.

Published in:

2003

By:

Huijbregts, S. C. J.;
De Sonneville, L. M. J.;
Van Spronsen, F. J.;
Berends, I. E.;
Licht, R.;
Verkerk, P. H.;
Sergeant, J. A.

Publication type:

Journal Article

Maternal phenylketonuria: A case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels.

Published in:

2002

By:

Antshel, Kevin M.;
Gurian, Elizabeth A.;
Waisbren, Susan E.

Publication type:

Journal Article

Deficits in memory strategy use related to prefrontal dysfunction during early development: Evidence from children with phenylketonuria.

Published in:

2001

By:

White, Desirée A.;
Nortz, Marsha J.;
Mandernach, Tammy;
Huntington, Kathleen;
Steiner, Robert D.

Publication type:

Journal Article

Parental problem-solving skills, stress, and dietary compliance in phenylketonuria.

Published in:

1989

By:

Fehrenbach, Annette M.;
Peterson, Lizette

Publication type:

Journal Article

Coping with dietary therapy in phenylketonuria: A case report.

Published in:

1988

By:

Archer, Lynda A.;
Cunningham, Charles E.;
Whelan, Donald T.

Publication type:

Journal Article

Model phenylketonuria (PKU) in the albino rat: Behavioral, biochemical, and neuroanatomical effects.

Published in:

1975

By:

Schalock, Robert L.;
Brown, W. Jann;
Copenhaver, John H.;
Gunter, Ralph

Publication type:

Journal Article

Experimental attempts to produce phenylketonuria in animals: A critical review.

Published in:

1965

By:

Karrer, Rathe;
Cahilly, Glenn

Publication type:

Journal Article

Avoidance learning in phenylketonuric monkeys.

Published in:

1973

By:

Chamove, Arnold S.;
Harlow, Harry F.

Publication type:

Journal Article

Psychosocial factors in phenylketonuria.

Published in:

1967

By:

Wood, Alfred C. Jr.;
Friedman, C. Jack;
Steisel, Ira M.

Publication type:

Journal Article

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

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

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