Works matching DE "PHENYLKETONURIA"

Results: 1009

In Search of the Mommy Gene: Truth and Consequences in Behavioral Genetics.

Published in:

Science, Technology & Human Values, 2010, v. 35, n. 2, p. 200, doi. 10.1177/0162243909340260

By:

Rosoff, Philip M.

Publication type:

Article

mRNA‐Loaded Lipid‐Like Nanoparticles for Liver Base Editing Via the Optimization of Central Composite Design.

Published in:

Advanced Functional Materials, 2021, v. 31, n. 32, p. 1, doi. 10.1002/adfm.202011068

By:

Zheng, Qian;
Qin, Fengming;
Luo, Ruijie;
Jin, Chaohui;
Huang, Hai;
Xi, He;
Xiao, Wen;
Guo, Mengran;
Yang, Shuping;
He, Siyan;
Cheng, Lizhi;
Fan, Na;
Yao, Shaohua;
Song, Xiangrong

Publication type:

Article

Effects of phenylalanine on the survival and neurite outgrowth of rat cortical neurons in primary cultures: possible involvement of brain-derived neurotrophic factor.

Published in:

Molecular & Cellular Biochemistry, 2010, v. 339, n. 1/2, p. 1, doi. 10.1007/s11010-009-0364-2

By:

Duan Li;
Xuefan Gu;
Lihua Lu;
Lili Liang

Publication type:

Article

The use of mass spectrometry to analyze dried blood spots.

Published in:

Mass Spectrometry Reviews, 2016, v. 35, n. 3, p. 361, doi. 10.1002/mas.21441

By:

Wagner, Michel;
Tonoli, David;
Varesio, Emmanuel;
Hopfgartner, Gérard

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

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

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 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: 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

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

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 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

Retinal thinning in phenylketonuria and Gaucher disease type 3.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 4, p. 1153, doi. 10.1007/s00417-021-05424-5

By:

Hopf, Susanne;
Schuster, Alexander K.;
Hennermann, Julia B.;
Pfeiffer, Norbert;
Pitz, Susanne

Publication type:

Article

Gender-Dependent Cholinergic System Alterations in a Phenylketonuria Model.

Published in:

Journal of Health Science Yuksek Ihtisas University / Yüksek İhtisas Üniversitesi Sağlık Bilimleri Dergisi, 2024, v. 5, n. 2, p. 60, doi. 10.51261/yiu.2024.1541266

By:

Cicek, Cigdem;
Gok, Muslum;
Bodur, Ebru

Publication type:

Article

Newborn Metabolic and Endocrine Disease Screening Program: Example of Giresun Province Between 2015 and 2020.

Published in:

Journal of Tepecik Education & Research Hospital / İzmir Tepecik Eğitim ve Araştırma Hastanesi Dergisi, 2023, v. 33, n. 2, p. 258, doi. 10.4274/terh.galenos.2023.39297

By:

Küçük, Emine Ela;
Bulut, Muhammet;
Özek, Ünal;
Takır, Selçuk

Publication type:

Article

Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.

Published in:

Journal for Specialists in Pediatric Nursing, 2021, v. 26, n. 1, p. 1, doi. 10.1111/jspn.12312

By:

Lowe, Tracy B.;
DeLuca, Jane;
Arnold, Georgianne

Publication type:

Article

G6PD Deficiency: What is a Family Physician to do? Making Sense of the G6PD Mandate and its Implementation.

Published in:

Family Doctor: A Journal of the New York State Academy of Family Physicians, 2022, v. 11, n. 2, p. 10

By:

Chu, Tianrae;
Hudson, Sarah

Publication type:

Article

AN OLFACTORY DISCRIMINATION PROCEDURE FOR MICE.

Published in:

Journal of the Experimental Analysis of Behavior, 2000, v. 73, n. 3, p. 304, doi. 10.1901/jeab.2000.73-305

By:

Mihalick, Sheila M.;
Langlois, Jason C.

Publication type:

Article

Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios.

Published in:

Journal of Law, Medicine & Ethics, 2016, v. 44, n. 2, p. 241, doi. 10.1177/1073110516654118

By:

Fost, Norman

Publication type:

Article

Is phenylketonuria causes bronchospasm during general anesthesia?

Published in:

2016

By:

Torun, Aysun Caglar;
Yilmaz, Mehmet Ziya

Publication type:

Case Study

The Epidemiological and Clinical Study of Phenylketonuria (PKU) Patients in Khorasan, Northeastern Iran.

Published in:

Iranian Journal of Neonatology, 2015, v. 6, n. 1, p. 18

By:

Morovatdar, Negar;
Aval, Shapour Badiee;
Yazdi, Seyed Mohammad Reza Hosseini;
Norouzi, Farzaneh;
Mina, Tahereh

Publication type:

Article

A comprehensive in silico characterization of bacterial signal peptides for the excretory production of Anabaena variabilis phenylalanine ammonia lyase in Escherichia coli.

Published in:

3 Biotech, 2018, v. 8, n. 12, p. 1, doi. 10.1007/s13205-018-1517-3

By:

Owji, Hajar;
Hemmati, Shiva

Publication type:

Article

Executive dysfunction in treated phenylketonuric patients.

Published in:

European Child & Adolescent Psychiatry, 2009, v. 18, n. 6, p. 360, doi. 10.1007/s00787-009-0738-8

By:

Azadi, Bahare;
Seddigh, Arshia;
Tehrani-Doost, Mehdi;
Alaghband-Rad, Javad;
Ashrafi, Mahmoud Reza

Publication type:

Article

Retrospective, observational data collection of the treatment of phenylketonuria in the UK, and associated clinical and health outcomes.

Published in:

Current Medical Research & Opinion, 2011, v. 27, n. 6, p. 1211, doi. 10.1185/03007995.2011.576237

By:

A. MacDonald;
K. Nanuwa;
L. Parkes;
M. Nathan;
D. Chauhan

Publication type:

Article

Hypopigmentary Skin Disorders: Current Treatment Options and Future Directions.

Published in:

Drugs, 2004, v. 64, n. 1, p. 89, doi. 10.2165/00003495-200464010-00006

By:

Hartrnann, Anke;
Bröcker, Eva-B.;
Becker, Jürgen C.

Publication type:

Article

Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39246-2

By:

Brooks, Dominique L.;
Carrasco, Manuel J.;
Qu, Ping;
Peranteau, William H.;
Ahrens-Nicklas, Rebecca C.;
Musunuru, Kiran;
Alameh, Mohamad-Gabriel;
Wang, Xiao

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

The Association between EEG Abnormality and Behavioral Disorder: Developmental Delay in Phenylketonuria.

Published in:

ISRN Pediatrics, 2012, p. 1, doi. 10.5402/2012/976206

By:

Karimzadeh, Parvaneh;
Alaee, Mohammad Reza;
Zarafshan, Hadi

Publication type:

Article

Effect of thermal treatment on microbiological, physicochemical and structural properties of high pressure homogenised hazelnut beverage.

Published in:

Quality Assurance & Safety of Crops & Foods, 2019, v. 11, n. 6, p. 561, doi. 10.3920/QAS2018.1493

By:

Atalar, I.;
Gul, O.;
Mortas, M.;
Gul, L. B.;
Saricaoglu, F. T.;
Yazici, F.

Publication type:

Article

Evaluation of Metabolic and Nutritional Status of Children with Autism Spectrum Disorders: Results of a Single Center in Turkey.

Published in:

Medical Journal of Bakirkoy, 2020, v. 16, n. 3, p. 231, doi. 10.5222/BMJ.2020.44153

By:

Ersoy, Melike;
Murat, Mehmet;
Yilmaz, Semra

Publication type:

Article

Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101690

By:

Khaksari, Kosar;
Chen, Wei-Liang;
Gropman, Andrea L.

Publication type:

Article

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.

Published in:

Genes, 2021, v. 12, n. 11, p. 1676, doi. 10.3390/genes12111676

By:

Vela-Amieva, Marcela;
Alcántara-Ortigoza, Miguel Angel;
Ibarra-González, Isabel;
González-del Angel, Ariadna;
Fernández-Hernández, Liliana;
Guillén-López, Sara;
López-Mejía, Lizbeth;
Carrillo-Nieto, Rosa Itzel;
Belmont-Martínez, Leticia;
Fernández-Lainez, Cynthia

Publication type:

Article

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.

Published in:

Genes, 2021, v. 12, n. 1, p. 20, doi. 10.3390/genes12010020

By:

Tresbach, Rafael Hencke;
Sperb-Ludwig, Fernanda;
Ligabue-Braun, Rodrigo;
Tonon, Tássia;
de Oliveira Cardoso, Maria Teresinha;
Heredia, Romina Soledad;
da Silva Rosa, Maria Teresa Alves;
Martins, Bárbara Cátia;
Poubel, Monique Oliveira;
da Silva, Luiz Carlos Santana;
Maillot, François;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

A Qualitative Investigation into the Determinants of Unfulfilled Needs in Caregivers of Patients with Phenylketonuria.

Published in:

Patient Preference & Adherence, 2024, v. 18, p. 2249, doi. 10.2147/PPA.S481857

By:

Zheng, Yu-Juan;
Hou, Yong-Chao;
Zhao, Hua;
Wang, Xiao-Yun;
Liu, Yu-Dan;
Li, Li;
Yu, Liang;
Guo, Ming-Mei

Publication type:

Article

Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression.

Published in:

2003

By:

Antshel, Kevin M.;
Waisbren, Susan E.

Publication type:

journal article

Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels.

Published in:

Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09553-w

By:

Pardo, Jèssica;
Capdevila-Lacasa, Clara;
Segura, Bàrbara;
Pané, Adriana;
Montserrat, Cristina;
de Talló Forga-Visa, Maria;
Moreno, Pedro J.;
Garrabou, Glòria;
Grau-Junyent, Josep M.;
Junqué, Carme;
Argudo-Ramírez, Ana;
Barrau-Martínez, Blanca;
Cantó, Judith;
Campistol, Jaume;
Cardellach, Francesc;
Casals-Pascual, Climent;
Chiva-Blanch, Gemma;
García-Arenas, Dolores;
García-García, Francesc Josep;
García-Villoria, Judit

Publication type:

Article