Cargando…

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

BACKGROUND: Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs. OBJECTIVE: This study seeks for the first time to genotype and biochemical...

Descripción completa

Detalles Bibliográficos
Autores principales:	Carducci, Carla, Amayreh, Wajdi, Ababneh, Haneen, Mahasneh, Amjad, Al Rababah, Buthaina, Al Qaqa, Kefah, Al Aqeel, Momen, Artiola, Cristiana, Tolve, Manuela, D'Amici, Sirio, Shen, Nan, Yu, Yongguo, Hillert, Alicia, Himmelreich, Nastassja, Okun, Jürgen G., Hoffmann, Georg F., Blau, Nenad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2020
Materias:	Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463056/ https://www.ncbi.nlm.nih.gov/pubmed/32905092 http://dx.doi.org/10.1002/jmd2.12130

Ejemplares similares

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test
por: Tolve, Manuela, et al.
Publicado: (2018)

Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis
por: Jaradat, Saied A., et al.
Publicado: (2015)

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

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria
por: Tao, Jing, et al.
Publicado: (2015)

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)

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)

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)

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism
por: Mastrangelo, Mario, et al.
Publicado: (2023)

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)

TNFα Modulates Fibroblast Growth Factor Receptor 2 Gene Expression through the pRB/E2F1 Pathway: Identification of a Non-Canonical E2F Binding Motif
por: D’Amici, Sirio, et al.
Publicado: (2013)

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)

Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria
por: Leuzzi, Vincenzo, et al.
Publicado: (2014)

Utility of Tetrahydrobiopterin Pathway in the Assessment of Diabetic Foot Ulcer: Significant and Complex Interrelations
por: Al-Nimer, Marwan, et al.
Publicado: (2019)

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo (1)H-NMR Analysis
por: Cannet, Claire, et al.
Publicado: (2023)

Surveillance study of bloodstream infections, antimicrobial use, and resistance patterns among intensive care unit patients: A retrospective cross-sectional study
por: Ababneh, Mera A., et al.
Publicado: (2022)

Antimicrobial use and mortality among intensive care unit patients with bloodstream infections: implications for stewardship programs
por: Ababneh, Mera A., et al.
Publicado: (2022)

Characterization of Human Vaginal Mucosa Cells for Autologous In Vitro Cultured Vaginal Tissue Transplantation in Patients with MRKH Syndrome
por: Nodale, Cristina, et al.
Publicado: (2014)

Potential Prognostic and Diagnostic Application of a Novel Monoclonal Antibody Against Keratinocyte Growth Factor Receptor
por: Ceccarelli, Simona, et al.
Publicado: (2014)

Roles for endothelial cell and macrophage Gch1 and tetrahydrobiopterin in atherosclerosis progression
por: Douglas, Gillian, et al.
Publicado: (2018)

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)

Phenylketonuria
por: Hudson, Frederick
Publicado: (1969)

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency
por: AL-Eitan, Laith N., et al.
Publicado: (2020)

Mast cell tetrahydrobiopterin contributes to itch in mice
por: Zschiebsch, Katja, et al.
Publicado: (2018)

Kynurenine and Tetrahydrobiopterin Pathways Crosstalk in Pain Hypersensitivity
por: Staats Pires, Ananda, et al.
Publicado: (2020)

Tetrahydrobiopterin deficiencies: Lesson from clinical experience
por: Bozaci, Ayse Ergul, et al.
Publicado: (2021)

A key role for tetrahydrobiopterin‐dependent endothelial NOS regulation in resistance arteries: studies in endothelial cell tetrahydrobiopterin‐deficient mice
por: Chuaiphichai, Surawee, et al.
Publicado: (2017)

Genetic etiology and clinical challenges of phenylketonuria
por: Elhawary, Nasser A., et al.
Publicado: (2022)

Topical KGF treatment as a therapeutic strategy for vaginal atrophy in a model of ovariectomized mice
por: Ceccarelli, Simona, et al.
Publicado: (2014)

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review
por: El-Metwally, Ashraf, et al.
Publicado: (2018)

Culturable gut bacteria lack Escherichia coli in children with phenylketonuria
por: Al-Zyoud, W., et al.
Publicado: (2019)

Gene Expression Profile of Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: New Insights into the Potential Role of Developmental Pathways
por: Nodale, Cristina, et al.
Publicado: (2014)

Fibroblast Growth Factor Receptor-2 Expression in Thyroid Tumor Progression: Potential Diagnostic Application
por: Redler, Adriano, et al.
Publicado: (2013)

Tetrahydrobiopterin-dependent formation of nitrite and nitrate in murine fibroblasts
Publicado: (1990)

Is tetrahydrobiopterin a therapeutic option in diabetic hypertensive patients?
por: Rubio-Guerra, Alberto Francisco, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_0cu6tu6okq6lpq1g2jisjd4ga4