Works matching DE "PHENYLALANINE hydroxylase"
Results: 70
An additional substrate binding site in a bacterial phenylalanine hydroxylase.
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- European Biophysics Journal, 2013, v. 42, n. 9, p. 691, doi. 10.1007/s00249-013-0919-8
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- Article
FENILCETONÚRIA: UMA REVISÃO DE LITERATURA.
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- Electronic Journal of Pharmacy / Revista Eletrônica de Farmácia, 2014, v. 11, n. 4, p. 27, doi. 10.5216/ref.v11i4.31258
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- Article
Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt.
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- Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 3, p. 293, doi. 10.1016/j.ejmhg.2013.03.001
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- Article
EVALUATION OF ORAL HEALTH STATUS IN CHILDREN WITH PHENYLKETONURIA.
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- International Journal of Clinical Dentistry, 2015, v. 8, n. 1, p. 43
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- Article
Disruption of PTPS Gene Causing Pale Body Color and Lethal Phenotype in the Silkworm, Bombyx mori.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 4, p. 1024, doi. 10.3390/ijms19041024
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- Article
The carrier rate of the phenylalanine hydoxylase gene ( PAH) mutations p.Arg408Trp, pArg261Gln, and p.Arg261X in the populations of Eurasia.
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- Russian Journal of Genetics, 2017, v. 53, n. 8, p. 910, doi. 10.1134/S1022795417060023
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- Article
Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness.
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- Russian Journal of Genetics, 2017, v. 53, n. 6, p. 712, doi. 10.1134/S1022795417060060
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- Article
Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49944-x
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- Article
An Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria.
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- Cell Journal (Yakhteh), 2016, v. 18, n. 2, p. 229
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- Article
Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study.
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- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00360
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- Article
Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.
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- International Journal of Preventive Medicine, 2017, v. 8, n. 1, p. 1, doi. 10.4103/ijpvm.IJPVM_378_16
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- Article
Caracterização genético-clínica de pacientes com fenilcetonúria no Estado de Alagoas.
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- Scientia Medica, 2012, v. 22, n. 2, p. 64
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- Publication type:
- Article
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
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- 2017
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- Publication type:
- journal article
Screening of three Mediterranean phenylketonuria mutations in Tunisian families.
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- Journal of Genetics, 2012, v. 91, n. 1, p. 91, doi. 10.1007/s12041-012-0140-z
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- Article
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site.
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- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007360
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- Article
EVALUATION OF TETRAHYDROBIOPTERIN (BH4), DIHYDROPTERIDINE REDUCTASE (DHPR), PHENYLALANINE HYDROXYLASE (PAH) AND MATRIX METALLOPROTEINASE-17 (MMP17) IN HYPERTENSIVE STROKE PATIENTS IN BASRAH.
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- Biochemical & Cellular Archives, 2021, v. 21, n. 2, p. 3215
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- Article
Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.
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- Journal of Health Sciences (Qassim University), 2017, v. 11, n. 5, p. 63
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- Publication type:
- Article
Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.
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- Maedica - a Journal of Clinical Medicine, 2015, v. 10, n. 4, p. 310
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- Article
Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.
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- Maedica - a Journal of Clinical Medicine, 2014, v. 9, n. 3, p. 242
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- Publication type:
- Article
Diagnosis and Treatment of Newborns Referred to the Metabolism Department from the National Newborn Screening Program in Türkiye: A 5-Year Single-Center Experience.
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- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2024, v. 18, n. 5, p. 274, doi. 10.12956/tchd.1454353
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- Article
Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations.
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- Aging & Disease, 2015, v. 6, n. 5, p. 390, doi. 10.14336/AD.2015.0827
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- Publication type:
- Article
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 302, doi. 10.1038/ejhg.2014.114
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- Publication type:
- Article
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
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- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183430
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- Publication type:
- Article
Dictyostelium phenylalanine hydroxylase is activated by its substrate phenylalanine
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- FEBS Letters, 2012, v. 586, n. 20, p. 3596, doi. 10.1016/j.febslet.2012.09.008
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- Article
The S-oxidation of S-carboxymethyl-L-cysteine in hepatic cytosolic fractions from BTBR and phenylketonuria enu1 and enu2 mice.
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- Xenobiotica, 2019, v. 49, n. 4, p. 495, doi. 10.1080/00498254.2018.1464684
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- Article
S-carboxymethyl- l -cysteine and it ( R / S )-S-oxides in beagle dog plasma and hepatic cytosol.
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- Xenobiotica, 2015, v. 45, n. 12, p. 1047, doi. 10.3109/00498254.2015.1042538
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- Article
Experiencia con sapropterina en pacientes mexicanos con hiperfenilalaninemia.
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 331
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- Article
Aspectos generales y panorama actual del estudio molecular de la fenilcetonuria (PKU) en México.
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 324
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- Article
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 145, doi. 10.1038/jhg.2013.136
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- Article
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
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- 2018
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- Publication type:
- journal article
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
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- Clinical Genetics, 2016, v. 90, n. 3, p. 247, doi. 10.1111/cge.12692
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- Publication type:
- Article
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH<sub>4</sub> responsiveness and evidence of a founder effect.
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- Clinical Genetics, 2015, v. 88, n. 1, p. 62, doi. 10.1111/cge.12444
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- Article
Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.
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- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201489
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- Article
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71361-8
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- Publication type:
- Article
Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49944-x
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- Publication type:
- Article
Phenylketonuria in Sohag: A Preliminary Study.
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- Jordan Journal of Biological Sciences, 2013, v. 6, n. 3, p. 243, doi. 10.12816/0001542
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- Article
Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.
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- Iranian Journal of Basic Medical Sciences, 2015, v. 18, n. 7, p. 649
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- Publication type:
- Article
Integrated nonlinear optical imaging microscope for on-axis crystal detection and centering at a synchrotron beamline.
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- Journal of Synchrotron Radiation, 2013, v. 20, n. 4, p. 531, doi. 10.1107/S0909049513007942
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- Article
FOURTEEN YEARS OF NEWBORN SCREENING FOR PHENYLKETONURIA IN VOJVODINA.
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- Medical Review / Medicinski Pregled, 2017, v. 70, n. 11/12, p. 411, doi. 10.2298/MPNS1712411K
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- Article
Adult-onset phenylketonuria with rapidly progressive dementia and parkinsonism.
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- 2016
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- Publication type:
- journal article
The Prevalence of Phenylketonuria in Iran: A Systematic Review and Metaanalysis.
- Published in:
- 2024
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- Publication type:
- Abstract
Phenylalanine hydroxylase: Function, structure, and regulation.
- Published in:
- IUBMB Life, 2013, v. 65, n. 4, p. 341, doi. 10.1002/iub.1150
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- Article
Association of Mitochondrial DNA Variants and Cognitive Impairment of Phenylketonuria Patients / POVEZANOST VARIJANTI U MITOHONDRIJALNOJ DNK I KOGNITIVNOG FENOTIPA KOD PACIJENATA SA FENILKETONURIJOM.
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- Journal of Medical Biochemistry, 2013, v. 32, n. 4, p. 347, doi. 10.2478/jomb-2013-0046
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- Publication type:
- Article
Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079482
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- Publication type:
- Article
Dynamic Regulation of Phenylalanine Hydroxylase by Simulated Redox Manipulation.
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- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0053005
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- Article
Phenylalanine Hydroxylase from Legionella pneumophila Is a Thermostable Enzyme with a Major Functional Role in Pyomelanin Synthesis.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046209
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- Article
Suboptimal provision of medications and dietary products for phenylketonuria in Malta.
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- Malta Medical Journal, 2016, v. 28, n. 4, p. 20
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- Publication type:
- Article
A novel compound-primed multiplex ARMS-PCR (CPMAP) for simultaneous detection of common PAH gene mutations.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1165, doi. 10.1007/s11011-018-0210-x
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- Article
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
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- Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1685, doi. 10.1007/s11011-017-0048-7
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- Article
A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria.
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- Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1119, doi. 10.1007/s11011-017-9998-z
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- Article