[HTML][HTML] Genetic etiology and clinical challenges of phenylketonuria
NA Elhawary, IA AlJahdali, IS Abumansour… - Human genomics, 2022 - Springer
This review discusses the epidemiology, pathophysiology, genetic etiology, and
management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn …
management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn …
[HTML][HTML] The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana… - The American Journal of …, 2020 - cell.com
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …
A noncoding RNA modulator potentiates phenylalanine metabolism in mice
The functional role of long noncoding RNAs (lncRNAs) in inherited metabolic disorders,
including phenylketonuria (PKU), is unknown. Here, we demonstrate that the mouse lncRNA …
including phenylketonuria (PKU), is unknown. Here, we demonstrate that the mouse lncRNA …
[HTML][HTML] Grain yield and correlated traits of bread wheat lines: Implications for yield improvement
MI Ullah, S Mahpara, R Bibi, RU Shah, R Ullah… - Saudi Journal of …, 2021 - Elsevier
Global wheat yields are suffering due to differences in regional climatic conditions and soil
fertility. Plant breeders are continuously working to improve the yield per unit area of wheat …
fertility. Plant breeders are continuously working to improve the yield per unit area of wheat …
[HTML][HTML] Italian national consensus statement on management and pharmacological treatment of phenylketonuria
A Burlina, G Biasucci, MT Carbone, C Cazzorla… - Orphanet Journal of …, 2021 - Springer
Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects
in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of …
in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of …
Metabolic phenotyping in phenylketonuria reveals disease clustering independently of metabolic control
L Moritz, K Klotz, SC Grünert, L Hannibal… - Molecular Genetics and …, 2023 - Elsevier
Abstract Phenylketonuria (PKU, MIM# 261600) is one of the most common inborn errors of
metabolism (IEM) with an incidence of 1: 10000 in the European population. PKU is caused …
metabolism (IEM) with an incidence of 1: 10000 in the European population. PKU is caused …
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria
N Himmelreich, N Shen, JG Okun, C Thiel… - Molecular genetics and …, 2018 - Elsevier
Residual phenylalanine hydroxylase (PAH) activity is the main determinant of the metabolic
phenotype in phenylketonuria (PKU). The genotypic heterogeneity of PKU, involving> 1000 …
phenotype in phenylketonuria (PKU). The genotypic heterogeneity of PKU, involving> 1000 …
[HTML][HTML] PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH)
gene and is characterized by altered amino acid metabolism. More than 1500 known PAH …
gene and is characterized by altered amino acid metabolism. More than 1500 known PAH …
[HTML][HTML] Next generation sequencing in newborn screening in the United Kingdom National Health Service
JC van Campen, ESA Sollars, RC Thomas… - International journal of …, 2019 - mdpi.com
Next generation DNA sequencing (NGS) has the potential to improve the diagnostic and
prognostic utility of newborn screening programmes. This study assesses the feasibility of …
prognostic utility of newborn screening programmes. This study assesses the feasibility of …