Results 51 to 60 of about 2,156 (206)
Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial [PDF]
, 2014 BACKGROUND AND PURPOSE: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a rare autosomal dominant disorder caused by NOTCH3 mutations, is characterized by vascular smooth muscle and endothelial cells
Federico A. +69 more
core +3 more sources
Molecular Genetics and Metabolism Reports, 2022 In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now the second medication available for PKU patients since the approval of sapropterin dihydrochloride in 2007.
Erika R. Vucko +3 more
doaj +1 more source
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 +3 more
doaj +1 more source
Journal of Applied Sciences and Environmental Management, 2022 This research aims to investigate the antioxidant activity of the crude extract of endophytic fungi (T. harzianum) and to test for the presence of phytochemicals. Fungi isolated from the leaf and stem of endemic medicinal plant were extracted with ethyl
O. M. Ameen +5 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2019 Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD.
Hiromi Nyuzuki +3 more
doaj +1 more source
Italian national consensus statement on management and pharmacological treatment of phenylketonuria
Orphanet Journal of Rare Diseases, 2021 Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine.
Alberto Burlina +9 more
doaj +1 more source
Phenylketonuria: nutritional advances and challenges
Nutrition & Metabolism, 2012 Despite the appearance of new treatment, dietary approach remains the mainstay of PKU therapy. The nutritional management has become complex to optimize PKU patients' growth, development and diet compliance.
Giovannini Marcello +4 more
doaj +1 more source
Adjusting diet with sapropterin in phenylketonuria:what factors should be considered? [PDF]
, 2011 The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence (and hence metabolic control) is commonly poor.
K. Dokoupil +31 more
core +1 more source
Saudi Pharmaceutical Journal, 2023 Hemorrhoids are a prevalent medical condition that necessitates effective treatment options. The current options for treatment consist of oral medications, topical applications, or surgery, yet a scarcity of highly effective drugs still exists.
Wirawan Adikusuma +7 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2018 Background Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone.
Ania C. Muntau +2 more
doaj +1 more source