Results 81 to 90 of about 68,473 (259)

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

Diagnostic Challenges and Outcome of Classical Phenylketonuria in a Resource‐Constrained Middle Eastern Country

International Journal of Pediatrics, Volume 2025, Issue 1, 2025.
Background: Scarce data on classical phenylketonuria diagnosis and outcome in low‐income Middle Eastern countries is available. The effect of phenylketonuria diet on growth parameters is still controversial. This 15‐year retrospective study is aimed at examining the diagnosis, outcome, and growth of classical phenylketonuria patients following a ...
Nadine Yazbeck, Rudy N. Zalzal, Fadi El Oueichek, Jinane Samaha, Abir Barhoumi, Pascale E. Karam, Somashekhar Marutirao Nimbalkar   +6 more
wiley   +1 more source

New Developments in Screening for Inborn Errors of Metabolism [PDF]

, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Cost-effectiveness analysis of newborn screening for organic acidemias in Hong Kong [PDF]

, 2016
published_or_final_versio
Johnston, JM, Mak, CM, Ng, VHL
core  

Therapeutic liver cell transplantation to treat murine PKU

Journal of Inherited Metabolic Disease, Volume 47, Issue 6, Page 1322-1335, November 2024.
Abstract For gene therapy of the liver, in vivo applications based on adeno‐associated virus are the most advanced vectors despite limitations, including low efficacy and episomal loss, potential integration and safety issues, and high production costs. Alternative vectors and/or delivery routes are of high interest.
Melanie Willimann, Hiu Man Grisch‐Chan, Nicole Rimann, Tanja Rothgangl, Martina Hruzova, Gerald Schwank, Beat Thöny   +6 more
wiley   +1 more source

Olfactory and gustatory perception in Brazilian PKU patients: A cross‐sectional study

JIMD Reports, Volume 65, Issue 6, Page 426-432, November 2024.
Abstract Patients with phenylketonuria (PKU) have a highly restrictive diet, which involves restriction of phenylalanine (Phe) intake and daily use of Phe‐free metabolic formula. However, little is known about the potential impact of this diet on chemical senses.
Tássia Tonon, Chenia Martinez, Tatiele Nalin, Soraia Poloni, Otávio Bejzman Piltcher, François Maillot, Bianca Fasolo Franceschetto, Ida Vanessa D. Schwartz   +7 more
wiley   +1 more source

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

The Turkish Journal of Pediatrics
Objective. Phenylketonuria (PKU) is a prevalent inherited metabolic disorder, resulting from biallelic pathogenic variants in the PAH gene. This study aimed to assess the clinical characteristics of 1103 infants referred to a single center due to ...
Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, Mustafa Güvercin, Yılmaz Yıldız, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı   +8 more
doaj   +1 more source

Synthesis of 6β-N(5)-Methyl-5,6,7,8-tetrahydro-L-biopterin

Pteridines, 1993
Summary 6β-N(5)-methyl-5.6J,8-tetrahydro-L-biopterin·2 HC1. a new derivate of biological interest, was synthesized from 6β-5,6,7,8-tetrahydro-L-biopteril·2 HC1 and characterized.
Bosshard Rene, Heizmann Claus W., Viscontini Max   +2 more
doaj   +1 more source

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

The Turkish Journal of Pediatrics, 2012
In many countries, neonatal screening programs have been unable to expand and have been limited to a few diseases. We highlight herein the opportunity available for the early detection of some inborn errors of metabolism (IEMs) in those countries ...
Ozlem Unal, Burcu Oztürk-Hişmi, Turgay Coşkun, Ayşegül Tokatlı, Ali Dursun, Hatice Serap Sivri   +5 more
doaj   +1 more source

Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase

Molecular Therapy: Methods & Clinical Development, 2020
Phenylketonuria (PKU) is an inherited metabolic disorder caused by mutation within phenylalanine hydroxylase (PAH) gene. Loss-of-function of PAH leads to accumulation of phenylalanine in the blood/body of an untreated patient, which damages the ...
Rui Tao, Lin Xiao, Lifang Zhou, Zhaoyue Zheng, Jie Long, Lixing Zhou, Minghai Tang, Biao Dong, Shaohua Yao   +8 more
doaj   +1 more source