Keywords: فنیلالانین هیدروکسیلاز; S-oxidation polymorphism; Phenylalanine hydroxylase; Parkinson's disease; Amyotrophic lateral sclerosis; Biomarker;
مقالات ISI فنیلالانین هیدروکسیلاز (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: فنیلالانین هیدروکسیلاز; Amino acid; Appendicular lean mass index; Glycomacropeptide; Medical food; Osteoporosis; Renal net acid; Trabecular bone score; Urinary calcium excretion; AA-MF; Amino acid medical foods; ALM; Appendicular lean mass; BMD; Bone mineral density; DXA; Dual-e
Keywords: فنیلالانین هیدروکسیلاز; 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
Keywords: فنیلالانین هیدروکسیلاز; PKU mouse model; Phenylalanine ammonia lyase; Erythrocytes as drug delivery system; Enzyme replacement therapy; Cognition and PKU; Behavior and PKU; PKU; phenylketonuria; PAH; phenylalanine hydroxylase; Phe; l-phenylalanine; Tyr; l-tyrosine; BH4; tetrahyd
Keywords: فنیلالانین هیدروکسیلاز; PAH; phenylalanine hydroxylase; MF; medical foods; A:G; android:gynoid ratio; FFMI; fat-free mass index; FMI; fat mass index; Phe; phenylalanine; DXA; dual-energy X-ray absorptiometry; METs; metabolic equivalents; MHP; mild/mild hyperphenylalaninemia; PA;
Keywords: فنیلالانین هیدروکسیلاز; PKU; phenylketonuria; Phe; phenylalanine; PAH; phenylalanine hydroxylase; ACMG; American College of Medical Genetics and Genomics; US; United States; BH4; tetrahydrobiopterin; GMDI; Genetic Metabolic Dietitians International; Phenylketonuria; Adherence; B
Keywords: فنیلالانین هیدروکسیلاز; PKU; Phenylketonuria; PAH; Phenylalanine hydroxylase; Phe; Phenylalanine; DM; Diabetes Mellitus; GP; General population; OCD; Obsessive Compulsive Disorder; GMC; General Medical Condition; ADD/ADHD; Attention Deficit Disorder/Attention Deficit Hyperactivi
Keywords: فنیلالانین هیدروکسیلاز; AA-MF; amino acid medical foods; CNS; central nervous system; GMP; glycomacropeptide; GMP-MF; glycomacropeptide medical foods; LNAA; large neutral amino acid; LAT1; LNAA transporter 1; PAH; phenylalanine hydroxylase; PKU; phenylketonuria; Catecholamines;
Keywords: فنیلالانین هیدروکسیلاز; Allostery; Protein regulation; Pterin; TPH; tryptophan hydroxylase; PheH; phenylalanine hydroxylase; TyrH; tyrosine hydroxylase; RDTPH; regulatory domain of tryptophan hydroxylase; AUC; analytical ultracentrifugation; sw; weight average sedimentation coef
Keywords: فنیلالانین هیدروکسیلاز; Phenylketonuria; Phenylalanine hydroxylase; Nutrition; Microelement; Vitamin; Selenium; Biotin; Magnesium; Zinc; Iodine; Phosphorus
Keywords: فنیلالانین هیدروکسیلاز; BH4; tetrahydrobiopterin; DSF; differential scanning fluorimetry; L-Dopa; (S)-3,4-dihydroxyphenylalanine; PAH; phenylalanine hydroxylase; PKU; phenylketonuria; TH; tyrosine hydroxylase; THD; TH deficiency; TPH2; tryptophan hydroxylase isoform 2; PD; Parki
Keywords: فنیلالانین هیدروکسیلاز; 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: فنیلالانین هیدروکسیلاز; 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
Keywords: فنیلالانین هیدروکسیلاز; IEM; inborn errors of metabolism; NIH; National Institutes of Health; ODS; Office of Dietary Supplements; ORDR; Office of Rare Diseases Research; HRSA; Health Resources and Services Administration; PKU; phenylketonuria; PAH; phenylalanine hydroxylase; PHE
Keywords: فنیلالانین هیدروکسیلاز; DAH7PS; 3-deoxy-D-arabino-heptulosonate 7-phosphate synthase; IEC; ion exchange chromatography; MBP; maltose binding protein; PS; Phenyl Sepharose; Phe; phenylalanine; PAH; phenylalanine hydroxylase; PKU; phenylketonuria; PAGE; polyacrylamide gel electrop
PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine; PKU; Phenylalanine hydroxylase; PAH;
13C-phenylalanine breath test and serum biopterin in schizophrenia, bipolar disorder and major depressive disorder
Keywords: فنیلالانین هیدروکسیلاز; 13C-phenylalanine breath test; Stable isotope; Phenylalanine hydroxylase; Dopamine; Tetrahydrobiopterin (BH4); Late-onset schizophrenia;
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Keywords: فنیلالانین هیدروکسیلاز; ACMG; American College of Medical Genetics and Genomics; ADHD RS-IV IA; Attention Deficit Hyperactivity Disorder Rating Scale IV inattention subscale; AE; adverse event; CTCAE; Common Terminology Criteria for Adverse Events; DMC; Data Monitoring Committee
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria
Keywords: فنیلالانین هیدروکسیلاز; Phenylketonuria; PKU; Phenylalanine ammonia lyase; PAL; Phenylalanine hydroxylase; Phenylalanine; Enzyme substitution therapy;
MinireviewNew protein structures provide an updated understanding of phenylketonuria
Keywords: فنیلالانین هیدروکسیلاز; PAH; Phenylalanine hydroxylase; PKU; phenylketonuria; Phenylketonuria; Phenylalanine hydroxylase; Allostery; Conformational selection; Pharmacological chaperones;
In silico analyses of the effects of a point mutation and a pharmacological chaperone on the thermal fluctuation of phenylalanine hydroxylase
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine hydroxylase; Pharmacological chaperone; Molecular dynamics simulation; Thermal fluctuation;
Production of human recombinant phenylalanine hydroxylase in Lactobacillus plantarum for gastrointestinal delivery
Keywords: فنیلالانین هیدروکسیلاز; Phenylketonuria; Lactobacilli; Phenylalanine hydroxylase; Caco-2 cells;
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Keywords: فنیلالانین هیدروکسیلاز; AADC; aromatic l-amino acid decarboxylase; AR/ADGTPCH; autosomal recessive/dominant GTP-cyclohydrolase deficiency; BH4; tetrahydrobiopterin; DAT; dopamine transporter; DÃH; dopamine β-hydroxylase; DHFR; dihydrofolate reductase deficiency; DHPR; dihydrop
Molecular cloning and characterization of a phenylalanine hydroxylase from the common cutworm Spodoptera litura
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine hydroxylase; Spodoptera litura; Common cutworm; Insect immunity; Double-stranded RNA;
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach
Keywords: فنیلالانین هیدروکسیلاز; ACMG; American College of Medical Genetics; AGREE II; Appraisal of Guidelines for Research and Evaluation; BH4; tetrahydrobiopterin; BMD; bone mineral disease; DRI; dietary reference intake; DXA; dual x-ray absorptiometry; EF; executive function; FFM; fat
¿Qué debe saber el pediatra de las hiperfenilalaninemias?
Keywords: فنیلالانین هیدروکسیلاز; Hiperfenilalaninemias; Fenilalaninahidroxilasa; Retardo mental; PesquisaHyperphenylalaninaemia; Phenylalanine hydroxylase; Mental retardation; Screening
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
Keywords: فنیلالانین هیدروکسیلاز; PKU; phenylketonuria; PAH; phenylalanine hydroxylase; Phe; phenylalanine; Tyr; tyrosine; EF; executive functions; BRIEF; Behavior Rating Inventory of Executive Function; ANT; Amsterdam Neuropsychological Tasks; BRIEF-A; Behavior Rating Inventory of Execut
Long-term safety and efficacy of sapropterin: The PKUDOS registry experience
Keywords: فنیلالانین هیدروکسیلاز; AE; adverse event; PKU; phenylketonuria; Phe; phenylalanine; BH4; tetrahydrobiopterin; PKUDOS; phenylketonuria demographics, outcomes and safety; PAH; phenylalanine hydroxylase; Phenylketonuria; Phenylalanine; Sapropterin;
Sapropterin Is Safe and Effective in Patients less than 4-Years-Old with BH4-Responsive Phenylalanine Hydroxylase Deficiency
Keywords: فنیلالانین هیدروکسیلاز; BH4; Tetrahydrobiopterin; PAH; Phenylalanine hydroxylase; Phe; Phenylalanine;
WspóÅwystÄpowanie dwóch rzadkich chorób genetycznych: fenyloketonurii oraz zespoÅu Pradera i Williego. Opis przypadku
Keywords: فنیلالانین هیدروکسیلاز; fenyloketonuria; zespóÅ Pradera i Williego; hydroksylaza fenyloalaniny; tetrahydrobiopteryna; Phenylketonuria; Prader-Willi Syndrome; Phenylalanine hydroxylase; Tetrahydrobiopterin;
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry
Keywords: فنیلالانین هیدروکسیلاز; 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
Regulation of phenylalanine hydroxylase: Conformational changes upon phosphorylation detected by H/D exchange and mass spectrometry
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine hydroxylase; Phosphorylation; Regulation; Hydrogen-deuterium exchange; Allostery; Structure;
The effects of sapropterin on urinary monoamine metabolites in phenylketonuria
Keywords: فنیلالانین هیدروکسیلاز; 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
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness
Keywords: فنیلالانین هیدروکسیلاز; 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
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity
Keywords: فنیلالانین هیدروکسیلاز; AAAH; aromatic amino acid hydroxylase; AI; autoantibody index; AIRE; autoimmune regulator; APECED; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APS-1; autoimmune polyendocrine syndrome type 1; BH4; tetrahydropterin; BSA; bovine serum al
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
Keywords: فنیلالانین هیدروکسیلاز; Hyperphenylalaninemia; Phenylalanine hydroxylase; Diet; Intellectual disability
Hyperphenylalaninemia in the Czech Republic: Genotype–phenotype correlations and in silico analysis of novel missense mutations
Keywords: فنیلالانین هیدروکسیلاز; Hyperphenylalaninemia; Phenylalanine hydroxylase; Genotype–phenotype relationship; Molecular modelling
The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine hydroxylase; Total parenteral nutrition; Custom amino acid solution;
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening
Keywords: فنیلالانین هیدروکسیلاز; Phenylketonuria; Phenylalanine hydroxylase; PAH; Neonatal screening; Mutation analysis; Cyprus
Allosteric regulation of phenylalanine hydroxylase
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine hydroxylase; Allostery; Regulation; Phosphorylation; Tetrahydrobiopterin
Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome
Keywords: فنیلالانین هیدروکسیلاز; Cockayne syndrome; ERCC6 gene; Mutation; Microdeletion; CS; Cockayne syndrome; NER; Nucleotide excision repair; TCR; Transcription-coupled DNA repair; SNP; Single nucleotide polymorphism; PAH; Phenylalanine hydroxylase;
Direct evidence for a phenylalanine site in the regulatory domain of phenylalanine hydroxylase
Keywords: فنیلالانین هیدروکسیلاز; Enzyme regulation; NMR; Phenylalanine hydroxylase;
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria
Keywords: فنیلالانین هیدروکسیلاز; 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
Scallop phenylalanine hydroxylase implicates in immune response and can be induced by human TNF-α
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine hydroxylase; Immunomodulation; Innate immunity; Scallop; Chlamys farreri
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA
Keywords: فنیلالانین هیدروکسیلاز; Phenylketonuria; Phenylalanine hydroxylase; Mutation; Splicing; Nonsense-mediated decay;
The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-l-cysteine
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine hydroxylase; Enzyme activity; S-Carboxymethyl-l-cysteine; S-Oxidation
Cell encapsulation as a potential nondietary therapy for maternal phenylketonuria
Keywords: فنیلالانین هیدروکسیلاز; alginate microspheres; cell encapsulation; immunoisolation; phenylalanine hydroxylase; phenylketonuria;
Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study
Keywords: فنیلالانین هیدروکسیلاز; 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;
In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model
Keywords: فنیلالانین هیدروکسیلاز; Phenylalanine hydroxylase; Hph-1 mouse model; Hyperphenylalaninemia; GTP cyclohydrolase 1; Tetrahydrobiopterin; Pediatric metabolic disease; Phenylketonuria (PKU); Catecholamine; Dopamine; Serotonin
Characterization of metal ligand mutants of phenylalanine hydroxylase: Insights into the plasticity of a 2-histidine-1-carboxylate triad
Keywords: فنیلالانین هیدروکسیلاز; Enzyme kinetics; Iron; Phenylalanine hydroxylase; Mutagenesis