Cargando…

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria

BACKGROUND: A growing body of research has suggested that tetrahydrobiopterin (BH4) responsive phenotype can be predicted by the phenylalanine hydroxylase (PAH) genotype in patients with phenylketonuria (PKU), but data concerning the association between genotype and BH4 responsiveness are scarce in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tao, Jing, Li, Nana, Jia, Haitao, Liu, Zhen, Li, Xiaohong, Song, Jiaping, Deng, Ying, Jin, Xi, Zhu, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Translational Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700046/ https://www.ncbi.nlm.nih.gov/pubmed/26322415 http://dx.doi.org/10.1038/pr.2015.167

Ejemplares similares

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
por: Jeannesson-Thivisol, Elise, et al.
Publicado: (2015)

Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China
por: Li, Nana, et al.
Publicado: (2018)

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing
por: Li, Nana, et al.
Publicado: (2015)

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype
por: Anjema, Karen, et al.
Publicado: (2013)

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
por: Carducci, Carla, et al.
Publicado: (2020)

Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria
por: Gao, Hui
Publicado: (2022)

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
por: Anjema, Karen, et al.
Publicado: (2016)

The effects of tetrahydrobiopterin (BH(4)) treatment on brain function in individuals with phenylketonuria()
por: Christ, Shawn E., et al.
Publicado: (2013)

Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran
por: Setoodeh, Aria, et al.
Publicado: (2015)

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
por: Chaiyasap, Pongsathorn, et al.
Publicado: (2017)

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience
por: Scala, Iris, et al.
Publicado: (2015)

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses
por: Ferreira, Filipa, et al.
Publicado: (2021)

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)
por: Brantley, Kristen D, et al.
Publicado: (2018)

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
por: Zhang, Chuan, et al.
Publicado: (2023)

Cuticle Integrity and Biogenic Amine Synthesis in Caenorhabditis elegans Require the Cofactor Tetrahydrobiopterin (BH4)
por: Loer, Curtis M., et al.
Publicado: (2015)

Comparison of Genotypic and Phenotypic Correlations: Cheverud’s Conjecture in Humans
por: Sodini, Sebastian M., et al.
Publicado: (2018)

The challenge of long-term tetrahydrobiopterin (BH(4)) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply
por: Thiele, Alena G., et al.
Publicado: (2015)

Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome
por: Kamura, Misato, et al.
Publicado: (2020)

Adrenergic receptor genotype influences heart failure severity and β-blocker response in children with dilated cardiomyopathy
por: Reddy, Sushma, et al.
Publicado: (2015)

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients
por: Tresbach, Rafael Hencke, et al.
Publicado: (2020)

Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters
por: Yano, Shoji, et al.
Publicado: (2016)

Correlating Genotype and Phenotype in the Asexual Yeast Candida orthopsilosis Implicates ZCF29 in Sensitivity to Caffeine
por: de San Vicente, Kontxi Martinez, et al.
Publicado: (2019)

Genotype‐phenotype correlations and BH(4) estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil
por: Vieira Neto, Eduardo, et al.
Publicado: (2019)

Recoupling the Cardiac Nitric Oxide Synthases: Tetrahydrobiopterin Synthesis and Recycling
por: Alkaitis, Matthew S., et al.
Publicado: (2012)

The cardiovascular phenotype of adult patients with phenylketonuria
por: Azabdaftari, Aline, et al.
Publicado: (2019)

Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2021)

Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population
por: Wang, Xin, et al.
Publicado: (2021)

Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
por: Shang, Shunlai, et al.
Publicado: (2019)

(1)H nuclear magnetic resonance brain metabolomics in neonatal mice after hypoxia–ischemia distinguished normothermic recovery from mild hypothermia recoveries
por: Liu, Jia, et al.
Publicado: (2013)

Inflammation and vascular permeability correlate with growth in sporadic vestibular schwannoma
por: Lewis, Daniel, et al.
Publicado: (2019)

Detecting High-Order Epistasis in Nonlinear Genotype-Phenotype Maps
por: Sailer, Zachary R., et al.
Publicado: (2017)

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
por: D’Onofrio, Gianluca, et al.
Publicado: (2023)

Spectral flow cytometry identifies distinct nonneoplastic plasma extracellular vesicle phenotype in glioblastoma patients
por: Aibaidula, Abudumijiti (Zack), et al.
Publicado: (2023)

Central Tetrahydrobiopterin Concentration in Neurodevelopmental Disorders
por: Frye, Richard E.
Publicado: (2010)

Modulation of Radiation Response by the Tetrahydrobiopterin Pathway
por: Pathak, Rupak, et al.
Publicado: (2015)

The first study of successful pregnancies in Chinese patients with Phenylketonuria
por: Wang, Lin, et al.
Publicado: (2020)

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center
por: Vela-Amieva, M., et al.
Publicado: (2022)

Glucose transporter Glut1 controls diffuse invasion phenotype with perineuronal satellitosis in diffuse glioma microenvironment
por: Miyai, Masafumi, et al.
Publicado: (2020)

Molecular subgrouping of medulloblastoma based on few-shot learning of multitasking using conventional MR images: a retrospective multicenter study
por: Chen, Xi, et al.
Publicado: (2020)

MR1 overexpression correlates with poor clinical prognosis in glioma patients
por: Kubica, Phillip, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_0qnrr8d7heacn2lmop7rat6h1p