Results 51 to 60 of about 16,232 (245)
, 2017 Phenylketonuria is an autosomal recessive biochemical disorder most often resulting from a deficiency of phenylalanine hydroxylase, the enzyme which catalyzes the conversion of phenylalanine to tyrosine.
Hilary Vernon
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Revista da Sociedade Brasileira de Fonoaudiologia, 2012 OBJETIVO: Avaliar a via auditiva de crianças com fenilcetonúria tratadas precocemente, por meio de audiometria, imitanciometria e supressão das emissões otoacústicas transientes. MÉTODOS:Estudo prospectivo transversal comparativo com amostra composta por
Patrícia Souza Ribeiro +4 more
doaj +1 more source
Nanomaterials, 2022 Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of human phenylalanine hydroxylase (hPAH), which can lead to neurologic impairments in untreated patients.
Márcia M. S. Alves +4 more
doaj +1 more source
Photoreversible Polyurea Actuators With Spatiotemporal Control and Adaptive Mechanics
ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.A light–thermal responsive polyurea network incorporating reversibly dimerizable anthracene units enables spatiotemporal modulation of cross‐linking density and nearly 400‐fold stiffness tuning. Integrating programmable anisotropy, photopatterning, self‐healing, and photowelding within a single framework, this bioinspired “one network–multifunction ...
Zhiwen Song +7 more
wiley +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli +17 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Pteridines, 1991 The effect of an oral load of phenylalanine (100 mg/kg body weight) on the levels of neopterin and biopterin in urine has been determined in 8 heterozygotes for classical phenylketonuria and 25 supposed normal controls. In basal conditions, neopterin and
Ruiz-Vázquez P. +7 more
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A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood
The Turkish Journal of Pediatrics, 2016 Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients.
Betül Mazlum +5 more
doaj +1 more source
A price check on the ketogenic diet for adults with epilepsy in Australia
Epilepsia Open, EarlyView.Abstract Objective The ketogenic diet is an established and effective treatment for drug‐resistant epilepsy and is an emerging therapy for other conditions. Affordability of therapeutic ketogenic diets for epilepsy has not been well studied. This study aimed to compare weekly cost of ketogenic diets with national dietary guidelines and a typical ...
Lillian King +6 more
wiley +1 more source
, 2021 Currently, one of the most important tasks facing science and production is the creation of functional product technologies for use in different diets of the population in order to preserve and improve health, as well as reduce the risks and consequences
T. E. Borovik +3 more
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