دانلود مقالات ISI درباره Hpa, Hyperphenylalaninemia + ترجمه فارسی

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: 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

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: 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

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU

Keywords: βGal, β-galactosidase; BH4, (6R)-l-erythro-5,6,7,8-tetrahydrobiopterin ((6R)-BH4); cDNA, DNA complementary to RNA; DMEM, Dulbecco's modified eagle medium; DTT, dithiothreitol; Hcl, hydrogen chloride; HPA, hyperphenylalaninemia; HPLC, high-performance liqu

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

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

Keywords: 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

Optimization of an HPLC method for phenylalanine and tyrosine quantization in dried blood spot

Keywords: DBS, dried blood spot; HCl, hydrochloric acid; HPA, hyperphenylalaninemia; HPLC, high-performance liquid chromatography; LOD, limit of detection; LOQ, limit of quantitation; OPA-3-MPA, o-phthaldehyde-3-mercaptopropionic acid; PAH, phenylalanine hydroxylas

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

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

Keywords: 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: 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

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Keywords: BH4, tetrahydrobiopterin; CNS, central nervous system; DHPR, dihydropteridine reductase; DBS, dried blood spot; HPA, hyperphenylalaninemia; KOUT, 1st order rate of metabolic disposal; MHP, mild HPA; PAH, phenylalanine hydroxylase; PBW, percent body weight

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

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium

Keywords: BH4, (6R)-l-erythro-5,6,7,8-tetrahydrobiopterin; CD, circular dichroism; Δ13-PAH, PAH missing residues 1–13; DSC, differential scanning calorimetry; Ek, enterokinase; HPA, hyperphenylalaninemia; IPTG, isopropylthio-β-d-galactoside; L-Phe, phenylalanine; L

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2011 سفارش ترجمه