Keywords: هیپرفنیلالانینمی; HPA; hyperphenylalaninemia; PAH; phenylalanine hydroxylase; BH4; tetrahydrobiopterin; NGS; next generation sequencing; MLPA; multiplex ligation-dependent probe amplification; qRT-PCR; quantitative real-time PCR; APV; allelic phenotype values; GPV; genotyp
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Keywords: هیپرفنیلالانینمی; Autosomal recessive guanosine triphosphate cyclohydrolase I (GTPCH); Tetrahydrobiopterin (BH4); Hyperphenylalaninemia; Early replacement therapy
Keywords: هیپرفنیلالانینمی; 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: هیپرفنیلالانینمی; 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
Brain bioenergetics in rats with acute hyperphenylalaninemia
Keywords: هیپرفنیلالانینمی; Bioenergetics; Brain; HyperphenylalanineMia; Mitochondria; Phenylalanine; Phenylketonuria;
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
Keywords: هیپرفنیلالانینمی; Tetrahydrobiopterin; Phenylketonuria; PKU; Hyperphenylalaninemia;
Phenylalanine hydroxylase deficiency in south Italy: Genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Genotype–phenotype correlation; BH4 responsiveness prediction
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling
Keywords: هیپرفنیلالانینمی; BH4; tetrahydrobiopterin; CI; confidence interval; CV; coefficient of variation; DHPR; dihydropteridine reductase; GTPCH; guanosine triphosphate cyclohydrolase I; HPA; hyperphenylalaninemia; K-PD; kinetic pharmacodynamic; PAH; phenylalanine hydroxylase; P
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Metabolic pathway; Molecular diagnosis; Ion Torrent PGM sequencing
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry
Keywords: هیپرفنیلالانینمی; 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
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness
Keywords: هیپرفنیلالانینمی; BH4; tetrahydrobiopterin (6RL-erythro-5,6,7,8-tetrahydrobiopterin); Bp; base pairs; BIOPKUdb; International Database of Patients and Genotypes Causing HPA/PKU including BH4-responsive Phenotype; Conc.; concentration; cPKU; classic phenylketonuria; dNTP; d
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Phenylalanine hydroxylase; Diet; Intellectual disability
Impact of geographic access to care on compliance and metabolic control in phenylketonuria
Keywords: هیپرفنیلالانینمی; 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
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan
Keywords: هیپرفنیلالانینمی; Tetrahydrobiopterin deficiency; Biopten; Sapropterin; Hyperphenylalaninemia; PKU
Hyperphenylalaninemia in the Czech Republic: Genotype–phenotype correlations and in silico analysis of novel missense mutations
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Phenylalanine hydroxylase; Genotype–phenotype relationship; Molecular modelling
Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience
Keywords: هیپرفنیلالانینمی; 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
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11
Keywords: هیپرفنیلالانینمی; Phenylketonuria; Tetrahydrobiopterin; Hyperphenylalaninemia; Pseudoexon; Exomic splicing enhancer; mRNA splicing;
Long-chain polyunsaturated fatty acids profile in plasma phospholipids of hyperphenylalaninemic children on unrestricted diet
Keywords: هیپرفنیلالانینمی; Docosahexaenoic acid; Hyperphenylalaninemia; Fatty acids; Phenylketonuria
The spectrum of phenylketonuria genotypes in the Armenian population: Identification of three novel mutant PAH alleles
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Mutation analysis; DHPR deficiency
Non-PKU mild hyperphenylalaninemia (MHP) - The dilemma
Keywords: هیپرفنیلالانینمی; 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
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
Keywords: هیپرفنیلالانینمی; Phenylketonuria; Sapropterin; Hyperphenylalaninemia; BH4; PKU; PAH
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency
Keywords: هیپرفنیلالانینمی; Inborn errors of metabolism; Hyperphenylalaninemia; Phenylketonuria; Phenylalanine; Tetrahydrobiopterin
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria
Keywords: هیپرفنیلالانینمی; 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
Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients
Keywords: هیپرفنیلالانینمی; Phenylketonuria; Hyperphenylalaninemia; Tetrahydrobiopterin; Genotype; Phenotype
Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; 6-pyruvoyl-tetrahydropterin synthase; Tetrahydrobiopterin; BH4; Treatment; OutcomeAR, aldose reductase; BH4, tetrahydrobiopterin; CR, carbonyl reductase; DHPR, dihydropteridine reductase; GTP, guanosine triphosphate; GTPCH, guanosin
Management of phenylketonuria in Europe: Survey results from 19 countries
Keywords: هیپرفنیلالانینمی; Phenylalanine; Diet; BH4; Guidelines; PKU; Hyperphenylalaninemia
Lipoic acid prevents oxidative stress in vitro and in vivo by an acute hyperphenylalaninemia chemically-induced in rat brain
Keywords: هیپرفنیلالانینمی; Phenylalanine; Hyperphenylalaninemia; Lipoic acid; Antioxidant; Neuroprotection; Oxidative stress
Optimizing the use of sapropterin (BH4) in the management of phenylketonuria
Keywords: هیپرفنیلالانینمی; Phenylketonuria; Sapropterin; Tetrahydrobiopterin; Phe; Kuvan; Hyperphenylalaninemia;
In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model
Keywords: هیپرفنیلالانینمی; Phenylalanine hydroxylase; Hph-1 mouse model; Hyperphenylalaninemia; GTP cyclohydrolase 1; Tetrahydrobiopterin; Pediatric metabolic disease; Phenylketonuria (PKU); Catecholamine; Dopamine; Serotonin
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms
Keywords: هیپرفنیلالانینمی; GTP cyclohydrolase I; GCH1; Tetrahydrobiopterin; BH4; Hyperphenylalaninemia; Neurotransmitters; Dopa-responsive dystonia; Extrapyramidal movements; Oculogyric crises; Limb spasticity
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Phenylketonuria; Tetrahydrobiopterin; Phenylalanine hydroxylase; Neonatal screening
Reduced availability of brain amines during critical phases of postnatal development in a genetic mouse model of cognitive delay
Keywords: هیپرفنیلالانینمی; Blood-brain barrier; Critical period; Hydroxylase activity; Hyperphenylalaninemia; Neurodevelopmental disorders; Tyrosine; Tryptophan; l-DOPA; 5-HTP
LC determination of biopterin reduced forms by UV-photogeneration of biopterin and fluorimetric detection
Keywords: هیپرفنیلالانینمی; LC; Fluorimetric detection; Photoirradiation; Tetrahydrobiopterin (BH4); Biopterin (BIO); Serum; Hyperphenylalaninemia
Assessment of Tetrahydrobiopterin (BH4) Responsiveness in Phenylketonuria
Keywords: هیپرفنیلالانینمی; BH4; Tetrahydrobiopterin; HPA; Hyperphenylalaninemia; PAH; Phenylalanine hydroxylase; PKU; Phenylketonuria;
Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Phenylketonuria; Stable isotope; Biopterin; Phenylalanine hydroxylase; Breath test
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism
Keywords: هیپرفنیلالانینمی; Metabolome; Chemical diagnosis; GC–MS; Lactic acidemia; Hyperphenylalaninemia; Secondary phenylketonuria; Hyperprolinemia; Hyperammonemias; Ornithine transcarbamylase deficiency
Mitochondrial damage induced by fetal hyperphenylalaninemia in the rat brain and liver: Its prevention by melatonin, Vitamin E, and Vitamin C
Keywords: هیپرفنیلالانینمی; Mitochondria disorders; Lipid peroxidation; Hyperphenylalaninemia; Melatonin;
Effect of metals and phenylalanine on the activity of human tryptophan hydroxylase-2: Comparison with that on tyrosine hydroxylase activity
Keywords: هیپرفنیلالانینمی; Tryptophan hydroxylase-2; Tyrosine hydroxylase; Manganese; Phenylalanine; Hyperphenylalaninemia; Parkinsonism
Tratamiento de la hiperfenilalaninemia por déficit de fenilalanina hidroxilasa con tetrahidrobiopterina. ¿Cuándo y cómo?
Keywords: هیپرفنیلالانینمی; Hiperfenilalaninemia; Tetrahidrobiopterina; Test de sobrecarga de BH4; Tratamiento de la hiperfenilalaninemia; Hyperphenylalaninemia; Tetrahydrobiopterin; BH4 loading test; Hyperphenylalaninemia treatment;
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
Keywords: هیپرفنیلالانینمی; 6-Pyruvoyl-tetrahydropterin synthase deficiency; Atypical phenylketonuria; Hyperphenylalaninemia; Tetrahydrobiopterin; l-DOPA; hydroxytryptophan
Can the DCoHα isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?
Keywords: هیپرفنیلالانینمی; 4a-Hydroxy-tetrahydrobiopterin dehydratase; Hyperphenylalaninemia; DCoH; DCoHα; HNF1α; Pterin carbinolamine dehydratase; PCD; Bifunctional protein; Tetrahydrobiopterin; 7-Substituted pterins;
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene
Keywords: هیپرفنیلالانینمی; Phenylketonuria; PKU; Hyperphenylalaninemia; Phenylalanine hydroxylase; PAH; Mutation; Tetrahydrobiopterin; BH4; Expression; Structure; Modeling
Prise en charge nutritionnelle du jeune patient phénylcétonurique
Keywords: هیپرفنیلالانینمی; Diversification alimentaire; Hyperphénylalaninémie; Produits diététiques hypoprotéiques; Substituts protéiques; Systèmes de conversion alimentaireDietary diversification; Hyperphenylalaninemia; Hypoproteinic diet products; Protein replacements; Dietary co
Prenatal Diagnosis of Classical Phenylketonuria with Polymerase Chain Reaction, Automatic Sequencing, and Linkage Analysis with Short Tandem Repeats
Keywords: هیپرفنیلالانینمی; hyperphenylalaninemia; phenylalanine hydroxylase; phenylketonuria; polymerase chain reaction; prenatal diagnosis; short tandem repeat;
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
Keywords: هیپرفنیلالانینمی; Tetrahydrobiopterin; BH4; BH4-responsive; Hyperphenylalaninemia; Phenylketonuria; Classic; PKU;
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Phenylketonuria; Tetrahydrobiopterin; Phenylalanine hydroxylase; Perinatal hemochromatosis; Neonatal hemochromatosis; Renal tubulopathy; Fanconi syndrome; Hepatocyte nuclear factor; Dihydrofolate reductase;
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin
Keywords: هیپرفنیلالانینمی; Phenylketonuria; Tetrahydrobiopterin; BH4 sensitivity; Treatment; Hyperphenylalaninemia;
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
Keywords: هیپرفنیلالانینمی; Tetrahydrobiopterin; BH4 responsiveness; Hyperphenylalaninemia; Phenylketonuria; Nutritional status; PKU;
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients
Keywords: هیپرفنیلالانینمی; Hyperphenylalaninemia; Phenylketonuria; BH4-responsiveness; Therapy; Cofactor; Phenylalanine-hydroxylase-deficiency; Genotype;