Results 61 to 70 of about 31,184 (250)

THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

open access: yesElektronički Zbornik Radova Veleučilišta u Šibeniku, 2022
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)

open access: yesActa Pediátrica de México, 2014
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
doaj   +1 more source

High‐throughput markerless pose estimation and home‐cage activity analysis of tree shrew using deep learning

open access: yesAnimal Models and Experimental Medicine, EarlyView.
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]

open access: yes, 2001
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
core   +2 more sources

Phenylketonuria Diet Promotes Shifts in Firmicutes Populations

open access: yesFrontiers in Cellular and Infection Microbiology, 2019
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

open access: yesВопросы современной педиатрии, 2010
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
doaj   +2 more sources

Multiple superficial mucoceles on the lower lip of a patient with phenylketonuria: A case report

open access: yesJournal of Craniomaxillofacial Research, 2020
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
doaj   +1 more source

Safety, tolerability, pharmacokinetics and pharmacodynamics of HSK31858, a novel oral dipeptidyl peptidase‐1 inhibitor, in healthy volunteers: An integrated phase 1, randomized, double‐blind, placebo‐controlled, single‐ and multiple‐ascending dose study

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
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]

open access: yes, 2017
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
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia 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

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