Works matching DE "PHENYLKETONURIA"
Results: 1017
In Search of the Mommy Gene: Truth and Consequences in Behavioral Genetics.
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- Science, Technology & Human Values, 2010, v. 35, n. 2, p. 200, doi. 10.1177/0162243909340260
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- Article
mRNA‐Loaded Lipid‐Like Nanoparticles for Liver Base Editing Via the Optimization of Central Composite Design.
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- Advanced Functional Materials, 2021, v. 31, n. 32, p. 1, doi. 10.1002/adfm.202011068
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- Article
Effects of phenylalanine on the survival and neurite outgrowth of rat cortical neurons in primary cultures: possible involvement of brain-derived neurotrophic factor.
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- Molecular & Cellular Biochemistry, 2010, v. 339, n. 1/2, p. 1, doi. 10.1007/s11010-009-0364-2
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- Article
The use of mass spectrometry to analyze dried blood spots.
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- Mass Spectrometry Reviews, 2016, v. 35, n. 3, p. 361, doi. 10.1002/mas.21441
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- Article
Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAHFor the PKU special issue.
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- Human Mutation, 2003, v. 21, n. 4, p. 370, doi. 10.1002/humu.10198
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- Article
How PAH gene mutations cause hyper?phenylalaninemia and why mechanism matters: Insights from in vitro expressionFor the PKU Special Issue.
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- Human Mutation, 2003, v. 21, n. 4, p. 357, doi. 10.1002/humu.10197
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- 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).
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- Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9116
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- 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).
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- Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9115
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- 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).
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- Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9114
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- 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).
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- Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9113
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- Publication type:
- Article
A role for overdominant selection in phenylketonuria? Evidence from molecular data (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205
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- Publication type:
- Article
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I (Communicated by Mark H. Paalman).
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- Human Mutation, 2003, v. 21, n. 4, p. 401, doi. 10.1002/humu.10202
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- Publication type:
- Article
PAHdb 2003: What a locus-specific knowledgebase can do (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 333, doi. 10.1002/humu.10200
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- Publication type:
- Article
Genetic diversity within the R408W phenylketonuria mutation lineages in EuropeFor the PKU Special Issue.
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- Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195
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- 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:
- 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:
- Publication type:
- Article
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195
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- Publication type:
- Article
Phenylketonuria mutations in Europe (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 345, doi. 10.1002/humu.10192
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- 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
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- Human Mutation, 2003, v. 21, n. 4, p. 400, doi. 10.1002/humu.9117
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- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- Publication type:
- Article
Retinal thinning in phenylketonuria and Gaucher disease type 3.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 4, p. 1153, doi. 10.1007/s00417-021-05424-5
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- Publication type:
- Article
Gender-Dependent Cholinergic System Alterations in a Phenylketonuria Model.
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- 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
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- Article
Newborn Metabolic and Endocrine Disease Screening Program: Example of Giresun Province Between 2015 and 2020.
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- 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
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- Article
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.
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- Journal for Specialists in Pediatric Nursing, 2021, v. 26, n. 1, p. 1, doi. 10.1111/jspn.12312
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- Publication type:
- Article
G6PD Deficiency: What is a Family Physician to do? Making Sense of the G6PD Mandate and its Implementation.
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- Family Doctor: A Journal of the New York State Academy of Family Physicians, 2022, v. 11, n. 2, p. 10
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- Publication type:
- Article
AN OLFACTORY DISCRIMINATION PROCEDURE FOR MICE.
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- Journal of the Experimental Analysis of Behavior, 2000, v. 73, n. 3, p. 304, doi. 10.1901/jeab.2000.73-305
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- Article
Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios.
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- Journal of Law, Medicine & Ethics, 2016, v. 44, n. 2, p. 241, doi. 10.1177/1073110516654118
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- Article
Is phenylketonuria causes bronchospasm during general anesthesia?
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- 2016
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- Publication type:
- Case Study
The Epidemiological and Clinical Study of Phenylketonuria (PKU) Patients in Khorasan, Northeastern Iran.
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- Iranian Journal of Neonatology, 2015, v. 6, n. 1, p. 18
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- 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.
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- 3 Biotech, 2018, v. 8, n. 12, p. 1, doi. 10.1007/s13205-018-1517-3
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- Publication type:
- Article
Executive dysfunction in treated phenylketonuric patients.
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- European Child & Adolescent Psychiatry, 2009, v. 18, n. 6, p. 360, doi. 10.1007/s00787-009-0738-8
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- Publication type:
- Article
Retrospective, observational data collection of the treatment of phenylketonuria in the UK, and associated clinical and health outcomes.
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- Current Medical Research & Opinion, 2011, v. 27, n. 6, p. 1211, doi. 10.1185/03007995.2011.576237
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- Publication type:
- Article
Hypopigmentary Skin Disorders: Current Treatment Options and Future Directions.
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- Drugs, 2004, v. 64, n. 1, p. 89, doi. 10.2165/00003495-200464010-00006
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- Publication type:
- Article
Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39246-2
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- Publication type:
- Article
Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice.
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- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00167
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- Article
The Association between EEG Abnormality and Behavioral Disorder: Developmental Delay in Phenylketonuria.
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- ISRN Pediatrics, 2012, p. 1, doi. 10.5402/2012/976206
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- Publication type:
- Article
Effect of thermal treatment on microbiological, physicochemical and structural properties of high pressure homogenised hazelnut beverage.
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- Quality Assurance & Safety of Crops & Foods, 2019, v. 11, n. 6, p. 561, doi. 10.3920/QAS2018.1493
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- Publication type:
- Article
Evaluation of Metabolic and Nutritional Status of Children with Autism Spectrum Disorders: Results of a Single Center in Turkey.
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- Medical Journal of Bakirkoy, 2020, v. 16, n. 3, p. 231, doi. 10.5222/BMJ.2020.44153
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- Publication type:
- Article
Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU.
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- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101690
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- Publication type:
- Article
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
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- Genes, 2021, v. 12, n. 11, p. 1676, doi. 10.3390/genes12111676
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- Publication type:
- Article
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
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- Genes, 2021, v. 12, n. 1, p. 20, doi. 10.3390/genes12010020
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- Publication type:
- Article
A Qualitative Investigation into the Determinants of Unfulfilled Needs in Caregivers of Patients with Phenylketonuria.
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- Patient Preference & Adherence, 2024, v. 18, p. 2249, doi. 10.2147/PPA.S481857
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- Article
Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression.
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- 2003
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- Publication type:
- journal article
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09553-w
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- Publication type:
- Article