Cargando…

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

BACKGROUND: Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result in profound neurocognitive disability. The objective of this systematic literat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Foreman, Pamela K., Margulis, Andrea V., Alexander, Kimberly, Shediac, Renee, Calingaert, Brian, Harding, Abenah, Pladevall-Vila, Manel, Landis, Sarah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173927/ https://www.ncbi.nlm.nih.gov/pubmed/34082800 http://dx.doi.org/10.1186/s13023-021-01874-6

Ejemplares similares

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis
por: Foreman, Pamela K., et al.
Publicado: (2020)

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
por: Singh, Rani H., et al.
Publicado: (2014)

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
por: Ye, Jun, et al.
Publicado: (2015)

Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish
por: Schwoerer, Jessica Scott, et al.
Publicado: (2018)

Cardiovascular risk associated with the use of glitazones, metformin and sufonylureas: meta-analysis of published observational studies
por: Pladevall, Manel, et al.
Publicado: (2016)

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency
por: Lotz-Havla, Amelie S., et al.
Publicado: (2021)

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
por: Zhou, Jinfu, et al.
Publicado: (2022)

Phenylalanine Binding Is Linked to Dimerization of the Regulatory Domain of Phenylalanine Hydroxylase
por: Zhang, Shengnan, et al.
Publicado: (2014)

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
por: Chen, Ting, et al.
Publicado: (2018)

Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones
por: Underhaug, Jarl, et al.
Publicado: (2012)

Activation of Phenylalanine Hydroxylase by Phenylalanine Does Not Require Binding in the Active Site
por: Roberts, Kenneth M., et al.
Publicado: (2014)

The risk of heart failure associated with the use of noninsulin blood glucose-lowering drugs: systematic review and meta-analysis of published observational studies
por: Varas-Lorenzo, Cristina, et al.
Publicado: (2014)

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
por: Zeng, Baitao, et al.
Publicado: (2023)

Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase
por: Carluccio, Carla, et al.
Publicado: (2013)

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria
por: Biglari, Alireza, et al.
Publicado: (2015)

Dynamic Regulation of Phenylalanine Hydroxylase by Simulated Redox Manipulation
por: Fuchs, Julian E., et al.
Publicado: (2012)

Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
por: Zhou, Yong-An, et al.
Publicado: (2012)

Stabilization of tryptophan hydroxylase 2 by l‐phenylalanine‐induced dimerization
por: Tidemand, Kasper D., et al.
Publicado: (2016)

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria
por: Rastegar Moghadam, Mahsa, et al.
Publicado: (2018)

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase
por: Pecimonova, Martina, et al.
Publicado: (2019)

Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenylalanine Hydroxylase
por: Conde-Giménez, María, et al.
Publicado: (2022)

Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice
por: Cacicedo, Maximiliano L., et al.
Publicado: (2022)

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices
por: Yuskiv, Nataliya, et al.
Publicado: (2019)

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients
por: Zhu, Tianwen, et al.
Publicado: (2017)

Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain
por: Patel, Dipali, et al.
Publicado: (2016)

Engineered Escherichia coli platforms for tyrosine-derivative production from phenylalanine using phenylalanine hydroxylase and tetrahydrobiopterin-regeneration system
por: Satoh, Yasuharu, et al.
Publicado: (2023)

PKU mutation p.G46S prevents the stereospecific binding of l‐phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain
por: Leandro, João, et al.
Publicado: (2017)

Structural and thermodynamic insight into phenylalanine hydroxylase from the human pathogen Legionella pneumophila()
por: Leiros, Hanna-Kirsti S., et al.
Publicado: (2013)

A Conserved Acidic Residue in Phenylalanine Hydroxylase Contributes to Cofactor Affinity and Catalysis
por: Ronau, Judith A., et al.
Publicado: (2014)

Phenylalanine 4-Hydroxylase Contributes to Endophytic Bacterium Pseudomonas fluorescens’ Melatonin Biosynthesis
por: Jiao, Jian, et al.
Publicado: (2021)

Unravelling the Complex Denaturant and Thermal-Induced Unfolding Equilibria of Human Phenylalanine Hydroxylase
por: Conde-Giménez, María, et al.
Publicado: (2021)

Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants
por: Sarodaya, Neha, et al.
Publicado: (2022)

Immunocytochemical identification of phenylalanine hydroxylase and albumin in cultured hepatoma cells and isolated rat hepatocytes
Publicado: (1981)

Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives
por: Lopes, Raquel R., et al.
Publicado: (2021)

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

The Amino Acid Specificity for Activation of Phenylalanine Hydroxylase Matches the Specificity for Stabilization of Regulatory Domain Dimers
por: Zhang, Shengnan, et al.
Publicado: (2015)

Impact of Fluorinated Ionic Liquids on Human Phenylalanine Hydroxylase—A Potential Drug Delivery System
por: Alves, Márcia M. S., et al.
Publicado: (2022)

Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
por: Dörr, Helmuth G., et al.
Publicado: (2019)

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population
por: Dumic, Katja K., et al.
Publicado: (2023)

Development of a Conceptual Model of Adherence to Oral Anticoagulants to Reduce Risk of Stroke in Patients with Atrial Fibrillation
por: Brown, T. Michelle, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_v51dv6llmsb8bpuu27shg0op6e