دانلود مقالات ISI درباره PKU، phenylketonuria + ترجمه فارسی

ارتباط بالینی اختلاف در غلظت فنیل آلانین با استفاده از طیف سنجی جرمی دوگانه در مقایسه با کروماتوگرافی مبادله یونی در فنیل کتونوری

Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; pah, phenylalanine hydroxylase; phe, phenylalanine; AAA, amino acid analyzer; MS/MS, tandem mass spectrometry; IEC, ion-exchange chromatography; tyr, tyrosine; DBS, dried blood spotBland–Altman; Amino acid analyzer; Phenylalanine ana

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

تجزیه و تحلیل مورفومتریک یکپارچگی ماده خاکستری در افراد مبتلا به فنیل کتونوری زودهنگام

Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; PAH, phenylalanine hydroxylase; Phe, phenylalanine; LNAAs, Large neutral amino acids; ETPKU, early-treated phenylketonuria; GM, gray matter; MRI, magnetic resonance imaging; CBA, cortex-based alignment; FSIQ, full scale intelligence

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

مصاحبه انگیزشی مبتنی بر تلفن مبتنی بر افزایش خودکارآمدی افراد مبتلا به فنیل کتونوری

Phone-based motivational interviewing to increase self-efficacy in individuals with phenylketonuria

Keywords: PKU، phenylketonuria; IEP, individualized education program; ID, intellectual disability; IQR, interquartile range; MI, motivational interviewing; PAM, Patient Activation Measure; Phe, phenylalanine; PKU, phenylketonuria; SOC, stages of changePhenylketonuria; Motivational inte

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

مقایسه طیف سنجی توده دو طرفه و تجزیه کننده اسید آمینه برای نظارت بر فنیل آلانین و تیروزین. پیامدهای مدیریت بالینی بیماران مبتلا به هیپر فنگیل آلانینمی

Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia

Keywords: PKU، phenylketonuria; AAA, amino acid analyzer; DBS, dried blood spot; HPA, hyperphenylalaninemia; HPLC, high-performance liquid chromatography; MS/MS, tandem mass spectrometry; PAH, phenylalanine hydroxylase; Phe, phenylalanine; PKU, phenylketonuria; SD, standard deviation; T

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

ورزش حاد در بیماران فنیل کتونوری درمان شده: فعالیت فیزیکی و پاسخ بیوشیمیایی

Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response

Keywords: PKU، phenylketonuria; BCAA, branched-chain amino acids; BMI, body mass index; BMR, basal metabolic rate; CTL, control; HDL, high-density lipoprotein; LDL, low-density lipoprotein; N/A, not applicable; NS, non-significant; Phe, phenylalanine; PKU, phenylketonuria; RER, respirat

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

اثر رژیم غذایی بر کنترل متابولیک در فنیل کتونوری: آیا محاسبه دقیق مصرف فنیل آلانین واقعا ضروری است؟

Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?

Keywords: PKU، phenylketonuria; Phe, phenylalanine; PKU, phenylketonuria; Phe > limit, Phe-concentrations above the therapeutic limit; SD, standard deviationDietary regime; Phenylketonuria; Phenylalanine; Metabolic control; Phe-intake

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

تشخیص، درمان و پیگیری بیماران مبتلا به کمبود تتراهیدروبیوپترین در استان شاندونگ، چین

Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China

Keywords: PKU، phenylketonuria; HPA, hyperphenylalaninemia; PAH, phenylalanine hydroxylase; PKU, phenylketonuria; BH4, tetrahydrobiopterin; GTPCH, guanosine 5′-triphosphate cyclohydrolase I; PTPS, 6-pyruvoyl-tetrahydropterin synthase; PCD, pterin-4-carbinolamine dehydratase; DHPR, dihyd

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

نتیجه ناهنجاری های ماده سفید در بیماران مبتلا به فنیل کتونوری زودهنگام: یک مطالعه گذشته نگر طولانی مدت درازمدت

The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study

Keywords: PKU، phenylketonuria; MRI, magnetic resonance imaging; PKU, phenylketonuria; WMSS, white matter severity score; IDC, index of dietary control; ANOVA, one-way analysis of variance; ANCOVA, analysis of covariance; PAH, phenylalanine hydroxylase; VIF, variance inflation factor; P

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population

Keywords: PKU، phenylketonuria; PAH, phenylalanine hydroxylase; HPA, hyperphenylalaninemia; PKU, phenylketonuria; BH4, tetrahydrobiopterin; L-Phe, phenylalanine; MLPA, multiplex ligation-dependent probe amplification; NGS, next generation sequencingHyperphenylalaninemia; Phenylketonuria

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply

Keywords: PKU، phenylketonuria; AAM, amino acid mixture; BH4, tetrahydrobiopterin; Phe, phenylalanine; PKU, phenylketonuria

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Methylome repatterning in a mouse model of Maternal PKU Syndrome

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; MPKU, Maternal PKU Syndrome; PHE, phenylalanine; Me-DIP, methylated DNA immunoprecipitation; miRNA, microRNA; μM, micromolarMaternal PKU Syndrome; Methylome; Gene expression; Toxicity

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Mental health and social functioning in early treated Phenylketonuria: The PKU-COBESO study

Keywords: PKU، phenylketonuria; ANT, Amsterdam Neuropsychological Tasks; ASR, Adult Self-Report; CBCL, Child Behavior Checklist; LNAA, large neutral amino acids; PAH, phenylalanine hydroxylase; Phe, phenylalanine; PKU, Phenylketonuria; PKU-COBESO, Phenylketonuria cognition, behavior, so

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Neurocognitive functioning in adults with phenylketonuria: Results of a long term study

Keywords: PKU، phenylketonuria; d2, Sustained Attention Test; HPA, hyperphenylalaninemia; HPLC, high-performance liquid chromatography; IQ, intelligence quotient; MRI, magnetic resonance imaging; Phe, phenylalanine; PKU, phenylketonuria; SD, standard deviation; WAIS III, Wechsler Adult

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

Keywords: PKU، phenylketonuria; HPA, hyperphenylalaninemia; Phe, phenylalanine; PAH, phenylalanine hydroxylase; PKU, phenylketonuria; BH4, tetrahydrobiopterinBH4-responsiveness; Hyperphenylalaninemia molecular epidemiology; PAH mutation; Phenylketonuria

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Risk factors for developing mineral bone disease in phenylketonuric patients

Keywords: PKU، phenylketonuria; BH4, 6R-5,6,7,8-tetrahydrobiopterin; BMI, body mass index; DEXA, bone densitometry; DHA, docosahexaenoic acid; EPA, eicosapentaenoic acid; MBD, mineral bone disease; PHE, phenylalanine; PTH, parathyroid hormone; PKU, phenylketonuria; WHO, World Health Org

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screening

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; TC, total cholesterol; LDL-C, low-density lipoprotein cholesterol; VD, vitamin D; PTH, parathyroid hormone; 7α-OHC, 7α-hydroxycholesterol; 7β-OHC, 7β-hydroxycholesterol; 24S-OHC, 24S-hydroxycholesterol; 27-OHC, 27-hydroxycholesterolP

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency

Keywords: PKU، phenylketonuria; AV, Arbitrary Value; BH4, Tetrahydrobiopterin; HR, Homozygosity rate; IVS, Intervening sequences; MHP, Mild Hyperphenylalaninemia; PAH, Phenylalanine hydroxylase; Phe, Phenylalanine; PKU, phenylketonuria; PRA, Predicted residual activityPhenylalanine; PKU

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Visual functions in phenylketonuria—evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses

Keywords: PKU، phenylketonuria; DHA, docosahexaenoic acid; ERG, electroretinography; FDT, frequency doubling technology campimetry; LCPUFA, long chain polyunsaturated fatty acid; MD, mean deviation; PKU, phenylketonuria; SF, spatial frequency; VEPs, visual evoked potentialsPhenylketonur

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Mutation spectrum of phenylketonuria in Syrian population: Genotype–phenotype correlation

Keywords: PKU، phenylketonuria; AV, arbitrary value; IVS, intervening sequences; MHP, mild hyperphenylalaninemia; PAH, phenylalanine hydroxylase; Phe, phenylalanine; PKU, phenylketonuria; PRA, predicted residual activity; HPA, hyperphenylalaninemiaPhenylketonuria; PAH; PKU; Genotype; Ph

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Characterization of 2-(methylamino)alkanoic acid capacity to restrict blood–brain phenylalanine transport in Pahenu2 mice: Preliminary findings

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; Pahenu2 mice, murine model of PKU developed with ethylnitrosourea mutagenesis; LNAA, large neutral amino acids; A transporter, system A (alanine) transport system (small neutral amino acids); ASC transporter, system ASC (alanine-seri

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه

Variations in genotype–phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population

Keywords: PKU، phenylketonuria; AV, arbitrary value; MHP, mild hyperphenylalaninemia; Pah, phenylalanine hydroxylase; PAHD, phenylalanine hydroxylase deficiency; Phe, phenylalanine; PKU, phenylketonuria; PRA, predicted residual PAH activityPAHD; Chinese Han population; Phenotype–genotyp

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه

Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; Phe, phenylalanine; BMD, bone mineral density; DXA, dual-energy X-ray absorptiometryPhenylketonuria; PKU; Bone mineral density; BMD; Dual-energy X-ray absorptiometry; DXA

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases

Keywords: PKU، phenylketonuria; IMD, Inherited metabolic diseases; PKU, Phenylketonuria; Phe, Phenylalanine; Tyr, Tyrosine; QoL, Quality of Life; WHOQOL-100, World Health Organization Quality of Life − 100; CADASIL, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography–electrospray ionization tandem mass spectrometry

Keywords: PKU، phenylketonuria; LC–ESI-MSMS, liquid chromatography electrospray ionization tandem mass spectrometry; Phe, phenylalanine; Tyr, tyrosine; PAH, phenylalanine hydroxylase; PKU, phenylketonuria; BH4, tetrahydrobiopterinPhenylketonuria; Tetrahydrobiopterin; Hyperphenylalaninem

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?

Keywords: PKU، phenylketonuria; PKU, Phenylketonuria; CPS, Control protein substitute; TPS, Trial protein substitute; UK, United Kingdom; MREC, The Multi-Centre Research Ethics CommitteeLiquid protein substitutes; Carbohydrate; Protein substitute; Phenylalanine; Phenylketonuria; Appetit

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; PHE, phenylalanine; TYR, tyrosinePhenylketonuria; Phenylalanine; Diurnal fluctuation; Dietary Phe distribution

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Adult phenylketonuria outcome and management

Keywords: PKU، phenylketonuria; phe, phenylalanine; PAH, phenylalanine hydroxylase; PKU, phenylketonuria; BH4, tetrahydrobiopternPhenylketonuria; Hyerphenylalaninemia; Adult; Sapropterin

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages

Keywords: PKU، phenylketonuria; Hcy, homocysteine; MMA, methylmalonic acid; Phe, phenylalanine; PKU, phenylketonuria; Vit B12, vitamin B12Phenylketonuria; Vitamin B12; Methylmalonic acid; Homocysteine; Metabolic control

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria

Keywords: PKU، phenylketonuria; ADMA, asymmetric dimethylarginine; CoQ10, coenzyme Q10; GPx, glutathione peroxidase; MDA-LDL, malondialdehyde-modified LDL; NO, nitric oxide; NOx, nitrite and nitrate; PKU, phenylketonuria; SOD, superoxide dismutase; TAR, total anti-oxidant reactivity; TB

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; Kuvan™, proprietary 6-R-sapropterin dihydrochloride; Phe, phenylalanine; Tyr, tyrosine; P/T, ratio of phenylalanine to tyrosine; BH4, tetrahydrobiopterinPhenylketonuria; Tetrahydrobiopterin treatment; Response

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Tetrahydrobiopterin Therapy for Phenylketonuria in Infants and Young Children

Keywords: PKU، phenylketonuria; BH4, Tetrahydrobiopterin; OFC, Occipital-frontal circumference; PAH, Phenylalanine hydroxylase; Phe, Phenylalanine; PKU, Phenylketonuria

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study

Keywords: PKU، phenylketonuria; 6R-BH4, 6R-tetrahydrobiopterin; AE, adverse event; PKU, phenylketonuria; PAH, phenylalanine hydroxylase; Phe, phenylalanine; SAE, serious adverse event; ULN, upper limit of normal6R-BH4; Clinical trial; Phenylalanine; Phenylketonuria; Sapropterin; Tetrahy

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2011 سفارش ترجمه

Follow up of phenylketonuria patients

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; phe, phenylalanine; tyr, tyrosine; LCPUFA, long-chain polyunsaturated fatty acid; DHA, docosahexaenoic acidPhenylketonuria; Follow up; Management; Outcome

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2011 سفارش ترجمه

Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation

Keywords: PKU، phenylketonuria; hPAH, human phenylalanine hydroxylase; rPAH, rat phenylalanine hydroxylase; PKU, phenylketonuria; l-Phe, l-phenylalanine; BH4, (6R)-l-erythro-5,6,7,8-tetrahydrobiopterin; IPTG, isopropyl-thio-β-d-galactoside; MBP, maltose binding protein; SEC, size-exclus

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2011 سفارش ترجمه

The role of intelligence in phenylketonuria: A review of research and management

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; Phe, phenylalanine; IQ, intelligence quotient; MRI, magnetic resonance imagingPhenylketonuria; IQ; Blood phenylalanine; Neurocognitive function

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2010 سفارش ترجمه

Beyond executive function: Non-executive cognitive abilities in individuals with PKU

Keywords: PKU، phenylketonuria; Phe, phenylalanine; PKU, phenylketonuria; PAH, phenylalanine hydroxylase; ETPKU, early-treated PKU; EF, executive functionInformation processing speed; Motor skills; Perception and visual–spatial abilities; Language; Memory and learning; Phenylketonuria

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2010 سفارش ترجمه

Simultaneous diagnostic method for phenylketonuria and galactosemia from dried blood spots using high-performance liquid chromatography-pulsed amperometric detection

Keywords: PKU، phenylketonuria; IMD, inherited metabolic disease; PKU, phenylketonuria; GALT, galactose 1-phosphate uridyltransferase; PAD, pulsed amperometric detection; ECM, enzymatic colorimetric methodNewborn screening; Simultaneous diagnosis; Phenylketonuria; Galactosemia; HPLC; Dr

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2010 سفارش ترجمه

Animal models of brain dysfunction in phenylketonuria

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; PAH, phenylalanine hydroxylase; Phe, phenylalanine; Tyr, tyrosine; Trp, tryptophan; BH4, tetrahydrobiopterin; IQ, intelligence quotient; BBB, blood–brain barrier; LNNA, large neutral amino acid; CE/LIF, capillary electrophoresis and

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Future treatment strategies in phenylketonuria

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; Phe, phenylalanine; PAH, phenylalanine hydroxylase; BBB, blood–brain barrier; IQ, intelligence quotient; GMP, glycomacropeptide; PAL, phenylalanine-ammonia lyase; LNAA, large neutral amino acids; BH4, tetrahydrobiopterin; FDA, Food a

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X

Keywords: PKU، phenylketonuria; PAH, phenylalanine hydroxylase; PKU, phenylketonuria; MHP, mild hyperphenylalaninemia; DGGE, denaturing gradient gel electrophoresis; MLPA, multiplex ligation probe amplificationPKU; Moroccan; PAH gene; G352fsdelG mutation; p.K85X mutation

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Effect of short- and long-term exposition to high phenylalanine blood levels on oxidative damage in phenylketonuric patients

Keywords: PKU، phenylketonuria; ANOVA, analysis of variance; GSH-Px, glutathione peroxidase; GSH, reduced glutathione; Phe, phenylalanine; PKU, phenylketonuria; ROS, reactive oxygen species; Se, selenium; TAR, total antioxidant reactivity; TBARS, thiobarbituric acid-reactive species; Ty

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2009 سفارش ترجمه

Dietary management practices in phenylketonuria across European centres

Keywords: PKU، phenylketonuria; Phenylketonuria; Diet; Nutrition; PhenylalanineHPA, hyperphenylalaninaemia; IQ, intelligence quotient; PAH, phenylalanine hydroxylase; Phe, phenylalanine; PKU, phenylketonuria

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2009 سفارش ترجمه

Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil

Keywords: PKU، phenylketonuria; Zinc; Selenium; Copper; Dietary therapy; Humans; PhenylketonuriaDRI, dietary reference intake; PKU, phenylketonuria; RDA, recommended dietary allowance

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor γ: Implications for the pathophysiology of phenylketonuria

Keywords: PKU، phenylketonuria; PKU, phenylketonuria; Phe, phenylalaninePhenylketonuria; Peroxisome proliferator-activated receptor gamma; Pathophysiology; Neuroblastoma cells

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2008 سفارش ترجمه

Structural and Biochemical Characterization of the Therapeutic Anabaena variabilis Phenylalanine Ammonia Lyase

Keywords: PKU، phenylketonuria; PAL, phenylalanine ammonia lyase; PKU, phenylketonuria; l-Phe, phenylalanine; tCA, trans-cinnamic acid; MIO, 4-methylidene-imidazole-5-one; PEG, polyethylene glycol; NEM, N-ethylmaleimide; TAL, tyrosine ammonia lyase; PDB, Protein Data Bank; NHS, N-hydrox

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2008 سفارش ترجمه

Effect of Fish Oil Supplementation on Fatty Acid Status, Coordination, and Fine Motor Skills in Children with Phenylketonuria

Keywords: PKU، phenylketonuria; ANOVA, Analysis of variance; DHA, Docosahexaenoic acid; EPA, Eicosapentaenoic acid; LC-PUFA, Long-chain polyunsaturated fatty acids; MANOVA, Multivariate analysis of variance; MQ, Motor development index; PKU, Phenylketonuria; ROS, Rostock-Oseretzky Scale

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2007 سفارش ترجمه

Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells

Keywords: PKU، phenylketonuria; BH4, (6R)-l-erythro-5,6,7,8-tetrahydrobiopterin; PAH, phenylalanine hydroxylase; PKU, phenylketonuria; DAHP, 2,4-diamino-6-hydroxypyrimidineTetrahydrobiopterin; Phenylketonuria; PAH gene expression; BH4-responsiveness; PKU mutations; Chemical chaperon

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2006 سفارش ترجمه