Works matching DE "PHENYLALANINE hydroxylase"
Results: 70
Experiencia con sapropterina en pacientes mexicanos con hiperfenilalaninemia.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 331
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- Publication type:
- 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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- Publication type:
- Article
Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00360
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- Publication type:
- 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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- Publication type:
- 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
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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- 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
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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- Publication type:
- 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
Association of Mitochondrial DNA Variants and Cognitive Impairment of Phenylketonuria Patients / POVEZANOST VARIJANTI U MITOHONDRIJALNOJ DNK I KOGNITIVNOG FENOTIPA KOD PACIJENATA SA FENILKETONURIJOM.
- Published in:
- Journal of Medical Biochemistry, 2013, v. 32, n. 4, p. 347, doi. 10.2478/jomb-2013-0046
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- Publication type:
- 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.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 1, p. 62, doi. 10.1111/cge.12444
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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
Differences and Comparisons of the Properties and Reactivities of Iron(III)-hydroperoxo Complexes with Saturated Coordination Sphere.
- Published in:
- Chemistry - A European Journal, 2015, v. 21, n. 3, p. 1221, doi. 10.1002/chem.201404918
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- Publication type:
- 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
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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- Publication type:
- Article
A novel compound-primed multiplex ARMS-PCR (CPMAP) for simultaneous detection of common PAH gene mutations.
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- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1165, doi. 10.1007/s11011-018-0210-x
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Glutathione metabolism enzymes in brain and liver of hyperphenylalaninemic rats and the effect of lipoic acid treatment.
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- Metabolic Brain Disease, 2014, v. 29, n. 3, p. 609, doi. 10.1007/s11011-014-9491-x
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- Publication type:
- Article
Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
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- Metabolic Brain Disease, 2014, v. 29, n. 1, p. 131, doi. 10.1007/s11011-013-9432-0
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- Publication type:
- Article
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0467-7
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- Publication type:
- Article
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0464-x
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- Publication type:
- 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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- Publication type:
- 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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- 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
Computational study of missense mutations in phenylalanine hydroxylase.
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- Journal of Molecular Modeling, 2015, v. 21, n. 4, p. 1, doi. 10.1007/s00894-015-2620-6
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- Publication type:
- 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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- 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
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
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
- Published in:
- 2017
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- Publication type:
- journal article
Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase.
- Published in:
- 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.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0053005
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- Publication type:
- Article
Phenylalanine Hydroxylase from Legionella pneumophila Is a Thermostable Enzyme with a Major Functional Role in Pyomelanin Synthesis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046209
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- Publication type:
- Article
Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.
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- Journal of Child Neurology, 2013, v. 28, n. 11, p. 1496, doi. 10.1177/0883073812457591
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- Publication type:
- Article
Importancia del diagnóstico precoz de fenilcetonuria en la mujer y del control de 10s niveles de fenilalanina en la gestación.
- Published in:
- 2012
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- Publication type:
- Case Study
Organic anion transporters, OAT1 and OAT3, are crucial biopterin transporters involved in bodily distribution of tetrahydrobiopterin and exclusion of its excess.
- Published in:
- Molecular & Cellular Biochemistry, 2017, v. 435, n. 1/2, p. 97, doi. 10.1007/s11010-017-3060-7
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- Publication type:
- Article
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 145, doi. 10.1038/jhg.2013.136
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- Publication type:
- 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
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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- Publication type:
- Article
Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.
- Published in:
- Maedica - a Journal of Clinical Medicine, 2014, v. 9, n. 3, p. 242
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- Publication type:
- Article
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
- Published in:
- Jornal de Pediatria, 2011, v. 87, n. 3, p. 245, doi. 10.2223/JPED.2090
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- Publication type:
- Article
Quantitative analysis by flow cytometry of green fluorescent protein-tagged human phenylalanine hydroxylase expressed in Dictyostelium.
- Published in:
- Pteridines, 2017, v. 28, n. 3/4, p. 153, doi. 10.1515/pterid-2017-0015
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- Publication type:
- Article
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
- Published in:
- 2018
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- Publication type:
- journal article
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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- Publication type:
- Article
Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.
- Published in:
- PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0211048
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- Publication type:
- Article
Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201489
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- Publication type:
- Article
Screening of three Mediterranean phenylketonuria mutations in Tunisian families.
- Published in:
- Journal of Genetics, 2012, v. 91, n. 1, p. 91, doi. 10.1007/s12041-012-0140-z
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- Publication type:
- Article
Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults.
- Published in:
- Behavioral & Brain Functions, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1744-9081-9-30
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- Publication type:
- Article
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00122
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- Publication type:
- Article