Keywords: Phenylketonuria; Phenylalanine; Diet; Co-existent; Sapropterin;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: AAV; adeno-associated virus; ACMG; American College of Medical Genetics and Genomics; AHRQ; Agency for Healthcare Research and Quality; BH4; tetrahydrobiopterin; BMD; bone mineral density; CDE; Common Data Element; CHD; congenital heart disease; CNS; cent
Keywords: BH4; 6R-tetrahydrobiopterin; ECT; early and continuously treated; HPA; hyperphenylalaninemia; IDC; index of dietary control; IQ; intelligence quotient; LNAA; large neutral amino acid; PAH; phenylalanine hydroxylase; PKU; phenylketonuria; SD; standard devi
Long-term safety and efficacy of sapropterin: The PKUDOS registry experience
Keywords: AE; adverse event; PKU; phenylketonuria; Phe; phenylalanine; BH4; tetrahydrobiopterin; PKUDOS; phenylketonuria demographics, outcomes and safety; PAH; phenylalanine hydroxylase; Phenylketonuria; Phenylalanine; Sapropterin;
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria
Keywords: Phenylketonuria; PKU; Treatment; Sapropterin; Attention deficit-hyperactivity disorder; Mental health;
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry
Keywords: AE; adverse event; Apgar; Appearance, Pulse, Grimace, Activity, Respiration; BH4; tetrahydrobiopterin; BMI; Body Mass Index; CDC; Centers for Disease Control and Prevention; ID; identification; LMP; last menstrual period; OFC; occipitofrontal circumferenc
White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria
Keywords: Phenylketonuria; Tetrahydrobiopterin; Sapropterin; White matter; Diffusion tensor imaging; Executive;
The effects of sapropterin on urinary monoamine metabolites in phenylketonuria
Keywords: PKU; Phenylketonuria; PAH; Phenylalanine hydroxylase; TH; Tyrosine hydroxylase; LNAA; Large neutral amino acids; MA; Monoamines; HPLC; High-Performance Liquid Chromatography; DA; Dopamine; DOPAC; Dihydroxyphenylacetate; E; Epinephrine; 5HIAA; 5-hydroxyind
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan
Keywords: Tetrahydrobiopterin deficiency; Biopten; Sapropterin; Hyperphenylalaninemia; PKU
The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria
Keywords: Prefrontal cortex; Phenylketonuria; Working memory; fMRI; Executive function; Sapropterin
Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients
Keywords: 6R-BH4; 6R-tetrahydrobiopterin; Kuvan; Phenylketonuria; Sapropterin; PKU
Recommendations for the use of sapropterin in phenylketonuria
Keywords: Phenylketonuria; Tetrahydrobiopterin; Sapropterin;
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
Targeting endothelial and myocardial dysfunction with tetrahydrobiopterin
Keywords: Tetrahydrobiopterin; Sapropterin; eNOS-uncoupling; Endothelial dysfunction; Myocardial dysfunction; Ventricular remodeling and heart failure
Adult phenylketonuria outcome and management
Keywords: phe, phenylalanine; PAH, phenylalanine hydroxylase; PKU, phenylketonuria; BH4, tetrahydrobiopternPhenylketonuria; Hyerphenylalaninemia; Adult; Sapropterin
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
Up to date knowledge on different treatment strategies for phenylketonuria
Keywords: Phenylketonuria; Tetrahydrobiopterin; Sapropterin; Phenylalanine ammonia lyase; Gene therapy
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study
Keywords: 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
Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)
Keywords: Phenylketonuria; Sapropterin; Blood; Phenylalanine;
Psychosocial issues and outcomes in maternal PKU
Keywords: Phenylketonuria; Pregnancy; Maternal phenylketonuria; Sapropterin
Optimizing the use of sapropterin (BH4) in the management of phenylketonuria
Keywords: Phenylketonuria; Sapropterin; Tetrahydrobiopterin; Phe; Kuvan; Hyperphenylalaninemia;
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
Keywords: PKU; Phenylketonuria; Genotype; BH4-responsiveness; Sapropterin