Results 41 to 50 of about 2,204 (208)
Biomedicines, 2022 Background: The effects of diabetes on the cardiovascular system as well as in the kidney are profound, which include hypertrophy and fibrosis. Diabetes also induces oxidative stress, at least in part due to the uncoupling of nitric oxide synthase (NOS);
Ulises Novoa +5 more
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Recommendations on phenylketonuria in Turkey
The Turkish Journal of Pediatrics, 2022 Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun +4 more
doaj +1 more source
Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria [PDF]
Clinical and Experimental Pediatrics, 2023 Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12th chromosome.
Fatma Nur Keskin +3 more
doaj +1 more source
Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? [PDF]
British Journal of Nutrition, 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. Patients with PKU (usually, but not exclusively, with a relatively mild form of the disorder) who are responsive to treatment with pharmacological doses of ...
Anita MacDonald +9 more
openalex +4 more sources
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies [PDF]
, 2020 Background: Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or ...
Porta, F
core +7 more sources
Sapropterin Dihydrochloride Mixed With Common Foods and Beverages [PDF]
Topics in Clinical Nutrition, 2014 Sapropterin dihydrochloride is used to lower blood phenylalanine levels in tetrahydrobiopterin-responsive phenylketonuria in conjunction with a phenylalanine-restricted diet. This study investigated the solubility and stability of sapropterin tablets and a sapropterin powder formulation when mixed in selected beverages and foods. Solubility was partial
Elaina Jurecki +6 more
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JIMD Reports, Volume 64, Issue 6, Page 446-452, November 2023., 2023 Abstract The question of an increased cardiovascular risk has been recently raised in adults with phenylketonuria (PKU). As low‐grade systemic inflammation increases cardiovascular risk, the INGRAPH study aimed to evaluate low‐grade inflammation in adult PKU patients compared to healthy controls and to determine the potential influence of Phe ...
Chloé Giret +10 more
wiley +1 more source
Use of sapropterin in Mexican patients with yperphenylalaninemia
Acta Pediátrica de México, 2014 Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo +2 more
doaj +1 more source
Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride [PDF]
Health and Quality of Life Outcomes, 2013 Abstract Background Sapropterin dihydrochloride effectively lowers plasma phenylalanine (Phe) for at least a third of phenylketonuria (PKU) patients, with potential for increased dietary Phe tolerance and decreased medical food requirement.
Teresa D. Douglas +3 more
openalex +5 more sources
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