Results 61 to 70 of about 31,184 (250)
THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT
Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme ...
Nikolina Gaćina, Jerko Vučak
doaj +1 more source
Neurological images in phenylketonuria (PKU)
Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients. Imaging
Juan Francisco Cabello
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We present a deep learning approach to achieve markerless pose estimation and recognize multiple spontaneous behaviors of tree shrews. This high‐throughput approach can monitor the home‐cage activities of 16 tree shrews simultaneously over an extended period.
Yangzhen Wang+10 more
wiley +1 more source
Low incidence of toxoplasma infection during pregnancy and in newborns in Sweden [PDF]
To estimate the burden of disease due to congenital toxoplasmosis in Sweden the incidence of primary infections during pregnancy and birth prevalence of congenital toxoplasmosis in 40978 children born in two regions in Sweden was determined.
Engman, ML+8 more
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Phenylketonuria Diet Promotes Shifts in Firmicutes Populations
Low-phenylalanine diet, the mainstay of treatment for phenylketonuria (PKU), has been shown to increase glycemic index and glycemic load, affecting the availability of substrates for microbial fermentation.
G. Bassanini+7 more
semanticscholar +1 more source
PHENYLKETONURIA IN CHILDREN: DIAGNOSTICS, CLINIC, TREATMENT
At the present times there is a quickened interest in hereditary metabolic diseases that can be revealed by neonatal screening. The list of these diseases includes a phenylketonuria.
T.V. Bushuyeva
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Multiple superficial mucoceles on the lower lip of a patient with phenylketonuria: A case report
This article reports a 13-year-old boy with phenylketonuria and multiple superficial mucoceles on his lower lip. Phenylketonuria (PKU) is a serious and rare genetic disorder that affects the levels of amino acids such as phenylalanine in the body.
Mahsa Alavi Namvar+2 more
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Abstract Aim Dipeptidyl peptidase‐1 (DPP‐1) inhibitors have been studied for the treatment of neutrophil‐mediated inflammatory diseases including bronchiectasis, bronchial asthma and cystic fibrosis. This study evaluated the pharmacokinetics, pharmacodynamics, safety and tolerability of DPP‐1 inhibitor HSK31858 in healthy Chinese volunteers.
Yuhao Wang+7 more
wiley +1 more source
Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda+11 more
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Inherited metabolic epilepsies–established diseases, new approaches
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