دانلود مقالات ISI درباره Pku + ترجمه فارسی

Impact of geographic access to care on compliance and metabolic control in phenylketonuria

Keywords: PKU; phenylketonuria; HPA; hyperphenylalaninemia; Phe; phenylalanine; N; number of monitoring phenylalanine samples; diffN; difference between the number of monitoring phenylalanine samples and the expected number of samples based on clinic guidelines; Ph

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

Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan

Keywords: Tetrahydrobiopterin deficiency; Biopten; Sapropterin; Hyperphenylalaninemia; PKU

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

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency

Keywords: 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

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

Keywords: 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

Is overweight an issue in phenylketonuria?

Keywords: Overweight; Obesity; Phenylketonuria; PKU; Diet

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

Micronutrient status in phenylketonuria

Keywords: PKU; Micronutrients; Selenium; Iron; Zinc; Vitamin B12

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2013 سفارش ترجمه

Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience

Keywords: ASL; argininosuccinate lyase; ASS; argininosuccinate synthetase; CPS1; carbamoylphosphate synthetase I; HCY; homocystinuria; HPA; hyperphenylalaninemia; HPLC; high-performance liquid chromatography; IEM; inborn error of metabolism; MSUD; maple syrup urine

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients

Keywords: Medication therapy management; Pharmacogenetics; Phenylketonuria; PKU; Tetrahydrobiopterin; Sapropterin dihydrochloride

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

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis

Keywords: PKU; Simplified diet versus classical diet;

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

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

Keywords: 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

Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients

Keywords: 6R-BH4; 6R-tetrahydrobiopterin; Kuvan; Phenylketonuria; Sapropterin; PKU

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

Assessment of tetrahydrobiopterin (BH4)-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population

Keywords: Phenylketonuria; PKU; BH4-responsiveness; Tetrahydrobiopterin; Phe; PAH;

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

Evaluation of the performance of an agricultural residue-based activated carbon aiming at removal of phenylalanine from aqueous solutions

Keywords: Phenylalanine; Adsorption; Agri-food waste; ASG1, ASG2, ASG3; activated spent coffee grounds; PHE; phenylalanine; pHPZC; point of zero charge; PKU; phenylketonuria; RMS; root mean square error measure; SCG; spent coffee grounds;

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

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene

Keywords: Phenylketonuria; PKU; PAH; Mutation analysis; MLPA; Large deletions

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

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening

Keywords: 3-HMGD; 3-hydroxy-3-methyl-glutaryl-CoA lyase deficiency (OMIM ID: 246450); 3-MCCD; 3-methylcrotonyl-CoA-dehydrogenase deficiency (OMIM IDs: 210200, 210210); 3-MGCHD; 3-methylglutaconyl-CoA hydratase deficiency (OMIM ID: 250950); ACMG; American College of

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2012 سفارش ترجمه

Zastosowanie spektroskopii magnetycznego rezonansu jądrowego w celu oceny mózgowego stężenia fenyloalaniny u chorych na fenyloketonurię

Keywords: PKU; MRI; dieta niskofenyloalaninowa; zapobieganie upośledzeniu umysłowemu; PKU; MRI; low-phenylalanine diet; prevention of mental retardation;

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

Non-PKU mild hyperphenylalaninemia (MHP) - The dilemma

Keywords: PKU; phenylketonuria; Phe; phenylalanine; HPA; hyperphenylalaninemia; MHP; non-PKU mild hyperphenylalaninemia; MPKU; maternal phenylketonuria; PAH; phenylalanine hydroxylase; BH4; tetrahydrobiopterin; Phenylketonuria; Tetrahydrobiopterin; Non-PKU mild hyp

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

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration

Keywords: BH4, Tetrahydrobiopterin; BLT, BH4-loading test; Phe, Phenylalanine; PAH, Phenylalanine-hydroxylase; PKU, PhenylketonuriaPhenylketonuria; PKU; Tetrahydrobiopterin; BH4; Sapropterin; Phenylalanine

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

PKU: High plasma phenylalanine concentrations are associated with increased prevalence of mood swings

Keywords: PKU; phenylketonuria; Phe; phenylalanine; IQ; intelligence quotient; UMCG; university medical centre of Groningen; AD(H)D; attention deficit (hyperactivity) disorder.; Phenylketonuria; PKU; Phenylalanine; Behavior; Mood swings; Mood;

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

Phenylketonuria

Keywords: hyperphenylalaninaemia; phenylketonuria; PKU; sapropterin therapy

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

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives

Keywords: CDC; Center for Disease Control and Prevention; CLSI; Clinical and Laboratory Standards Institute; DBS; dried blood spot; HSCT; hematopoietic stem cell transplantation; LSD; lysosomal storage disorder; MPS; mucopolysaccharidosis; NSQAP; Newborn Screening

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

Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria

Keywords: PKU; phenylketonuria; HPA; hyperphenylalaninemia; Phe; phenylalanine; PAL; phenylalanine ammonia lyase; PAH or Pah - gene, PAH or Pah - enzyme; phenylalanine hydroxylase; PD; pharmacodynamic; Av; Anabaena variabilis; ENU2; PKU mouse model Pahenu2/enu2

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

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

Keywords: Phenylketonuria; Sapropterin; Hyperphenylalaninemia; BH4; PKU; PAH

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

Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

Keywords: Phenylketonuria; PKU; Dietary control; Neurological complications; Behavioral problems; Brain magnetic resonance

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2011 سفارش ترجمه

Sub-micrometer particulate air pollution and cardiovascular mortality in Beijing, China

Keywords: ACP; accumulation mode particles; CDC; Center for Disease Control; CPC; Condensation Particle Counter; CI; confidence interval; DF; degrees of freedom; DMA; Differential Mobility Analyzer; GCV; generalized cross validation; ICD-10; International Classific

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

Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses

Keywords: Phenylketonuria; PKU; Cognition; Mental retardation; Amino acid transport; Cerebral protein synthesis; Neurotransmitter synthesis

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

Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic

Keywords: Phenylketonuria; PKU; Assessment; Outcomes; Psychology; Cognition; Emotion; Social

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

Phenylketonuria management from an European perspective: A commentary

Keywords: Phenylketonuria; PKU; Guideline; Treatment; Management; Definitions

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

Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria

Keywords: Satiety; Hunger; Insulin; PKU; GMP

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

Management of phenylketonuria in Europe: Survey results from 19 countries

Keywords: Phenylalanine; Diet; BH4; Guidelines; PKU; Hyperphenylalaninemia

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2010 سفارش ترجمه

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer

Keywords: PKU; Exonic splicing silencer; mRNA splicing; hnRNPH; Silent mutation

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه

Czy chorzy na fenyloketonurię są zagrożeni osteoporozą? Stan tkanki kostnej u chorych na fenyloketonurię w Polsce

Keywords: fenyloketonuria; osteoporoza; osteopenia; densytometria; PKU; osteoporosis; bone mass density; densytometry;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2010 سفارش ترجمه

Executive function in early-treated phenylketonuria: Profile and underlying mechanisms

Keywords: Executive function; Executive abilities; Executive control; Working memory; Inhibitory control; Flexibility; Shifting; Phenylketonuria; PKU

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2010 سفارش ترجمه

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Keywords: PKU; Phenylketonuria; Genotype; BH4-responsiveness; Sapropterin

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes

Keywords: PKU; Amino acid requirements; Genotype–phenotype relationship; Low-phenylalanine diet

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Keywords: AE; Adverse event; ANOVA; Analysis of variance; IQ; Intelligence quotient; PAH; Phenylalanine hydroxylase; Phe; Phenylalanine; PKU; Phenylketonuria; SAE; Serious adverse event; SOC; System order class;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2009 سفارش ترجمه

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

Keywords: Phenylketonuria; PKU; IQ; Phenylalanine; Variability

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

Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria

Keywords: Homocysteine; MTHFR; Folate; PKU; Genetic polymorphisms

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

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants

Keywords: PKU; PKU mutations; PKU mutations functional analysis; Expression studies of PKU mutants; Structural analysis

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

Keywords: BH4; PKU; Biopterin; Neopterin

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2008 سفارش ترجمه

Assessment of Tetrahydrobiopterin (BH4) Responsiveness in Phenylketonuria

Keywords: BH4; Tetrahydrobiopterin; HPA; Hyperphenylalaninemia; PAH; Phenylalanine hydroxylase; PKU; Phenylketonuria;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2007 سفارش ترجمه

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment

Keywords: Phenylketonuria; PKU; KUVAN; Tetrahydrobiopterin; BH4; Responsiveness; Sapropterin dihydrochloride

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2007 سفارش ترجمه

Dehydrogenase based reagentless biosensor for monitoring phenylketonuria

Keywords: Enzyme biosensor; Phenylalanine; PKU; 3,4-Dihydroxybenzaldehyde; NADH

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

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

Keywords: Melt profiling; PAH deficiency; PKU; Mutation detection; Genotyping

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2007 سفارش ترجمه

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro

Keywords: L1CAM; human gene for L1 cell adhesion molecule; PKU; phenylketonuriaPlexin B3; Cell adhesion; Neurite outgrowth

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2006 سفارش ترجمه

Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis

Keywords: Multiplex ligation probe amplification (MLPA); PKU; Exonic deletions; PAH gene; Mutations

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2006 سفارش ترجمه

Cerebral glucose metabolism in adults with early treated classic phenylketonuria

Keywords: PKU; PET scan; Glucose metabolism; Brain

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2006 سفارش ترجمه

Event-related potentials elicited during a visual Go-Nogo task in adults with phenylketonuria

Keywords: PKU; Phenylketonuria; Event-related potential; ERP; Sensory processing; Response inhibition; Executive functions

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2006 سفارش ترجمه

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene

Keywords: Phenylketonuria; PKU; Hyperphenylalaninemia; Phenylalanine hydroxylase; PAH; Mutation; Tetrahydrobiopterin; BH4; Expression; Structure; Modeling

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2006 سفارش ترجمه

Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity

Keywords: ANOVA; Analysis of variance; BASC; Behavioral Assessment System for Children; CGH; Comparative genomic hybridization; EMO; Early-onset morbid obesity of unknown cause; GIA; General Intellectual Ability; IBW; Ideal body weight; PKU; Phenylketonuria; PWS; P

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2006 سفارش ترجمه