Results 81 to 90 of about 2,204 (208)

The first study of successful pregnancies in Chinese patients with Phenylketonuria

BMC Pregnancy and Childbirth, 2020
Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common.
Lin Wang, Fang Ye, Hui Zou, Kundi Wang, Zhihua Chen, Qin Hui, Bingjuan Han, Chun He, Xiaowen Li, Ming Shen   +9 more
doaj   +1 more source

Genetic etiology and clinical challenges of phenylketonuria

Human Genomics, 2022
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the ...
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara   +11 more
doaj   +1 more source

An Oxford Nanopore Technologies–Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort

International Journal of Genomics, Volume 2025, Issue 1, 2025.
Background: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the PAH gene, resulting in deficient phenylalanine hydroxylase (PAH) enzyme activity and neurotoxic phenylalanine accumulation. Untreated PKU results in progressive neurodegeneration and severe intellectual disability.
Gülten Tuncel, Mehmet Cihan Balcı, Gökçe Akan, Hasan Hüseyin Kazan, Özge Özgen, Ahmet Çağlar Özketen, Meryem Karaca, Asuman Gedikbaşı, Fatmahan Atalar, Gülden Fatma Gökçay, Irfan Ahmad   +10 more
wiley   +1 more source

Late diagnosis of phenylketonuria with p.L48S/p.R408W genotype and late positive response to tetrahydrobiopterin – case presentation and literature review

Journal of Pediatric and Neonatal Individualized Medicine, 2020
Phenylketonuria (PKU) is an autosomal recessive disease with important consequences on nervous system development, if not properly treated. Decrease of the antioxidative mechanisms, altered transport of amino acids through the blood-brain barrier, low ...
Florentina Moldovanu, Radu Bogdan Calin, Micaela Iuliana Nanu, Marina Ruxandra Otelea   +3 more
doaj   +1 more source

Comparative analysis of gene and disease selection in genomic newborn screening studies

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 945-970, September 2024.
Abstract Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of target diseases and associated genes to be included.
Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl   +8 more
wiley   +1 more source

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Pediatrics, 2013
OBJECTIVE: Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4), is an approved drug for the treatment of patients with BH4-responsive phenylketonuria (PKU). The purpose of this study was to assess genotypes and data on the long-term effects of BH4/sapropterin on metabolic control and ...
Marcello Giovannini, Karen Anjema, Amaya Belanger-Quintana, Alberto Burlina, Annet M. Bosch, Vincenzo Leuzzi, François Feillet, Roberto Cerone, N. Lambruschini, Stefanie Keil, Stefanie Keil, Amelie S. Lotz-Havla, Thierry Billette de Villemeur, Lena Damaj, Ilse Kern, Enrica Riva, María L. Couce, Concetta Meli, Francjan J. van Spronsen, Nenad Blau, Ania C. Muntau   +20 more
openaire   +6 more sources

The pterin binding site of dihydropteroate synthase (DHPS): In silico screening and in vitro antibacterial activity of existing drugs

Results in Chemistry, 2023
Antimicrobial resistance has rendered the sulfonamide class of antibiotics obsolete. An additional binding site on the dihydropteroate synthase (DHPS) enzyme, i.e., the pterin binding site, has been shown to be a valid alternative to the well-known para ...
Maryké Shaw, Anél Petzer, Jacobus P. Petzer, Theunis T. Cloete   +3 more
doaj  

Do early‐treated adults with phenylketonuria sense high phenylalanine levels?

JIMD Reports, Volume 65, Issue 5, Page 354-358, September 2024.
Abstract This study aimed to analyze whether early‐treated adults with phenylketonuria (PKU) can subjectively sense high phenylalanine (Phe) concentrations and whether a possible impact of Phe on objective measures of cognitive performance and mood reflects patients' self‐perception.
Laura Hauri, Raphaela Muri, Regula Everts, Roman Trepp   +3 more
wiley   +1 more source

Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials [PDF]

, 2018
Background: This study assessed the immunogenicity of pegvaliase (recombinant Anabaena variabilis phenylalanine [Phe] ammonia lyase [PAL] conjugated with polyethylene glycol [PEG]) treatment in adults with phenylketonuria (PKU) and its impact on safety ...
Atkinson, John P, Boyer, Ryan, Gu, Zhonghu, Gupta, Soumi, Harding, Cary O, Knight, Vijaya, Larimore, Kevin, Lau, Kelly, Li, Mingjin, Olbertz, Joy, Rosen, Orli, Shepherd, Gillian, Shweighardt, Becky, Weng, Haoling H, Zoog, Stephen J   +14 more
core   +2 more sources

Endothelial dysfunction: molecular mechanisms and clinical implications

MedComm, Volume 5, Issue 8, August 2024.
Endothelial dysfunction is commonly linked to various disease states resulting from an imbalance in the production of vasodilators and vasoconstrictors, among other factors. Human diseases associated with endothelial dysfunction include atherosclerosis, diabetes, metabolic syndrome, neurodegenerative diseases, chronic kidney disease, hypertension ...
Xia Wang, Ben He
wiley   +1 more source