Results 81 to 90 of about 1,551 (187)
Do early‐treated adults with phenylketonuria sense high phenylalanine levels?
JIMD Reports, Volume 65, Issue 5, Page 354-358, September 2024.Abstract This study aimed to analyze whether early‐treated adults with phenylketonuria (PKU) can subjectively sense high phenylalanine (Phe) concentrations and whether a possible impact of Phe on objective measures of cognitive performance and mood reflects patients' self‐perception.
Laura Hauri +3 more
wiley +1 more source
Endothelial dysfunction: molecular mechanisms and clinical implications
MedComm, Volume 5, Issue 8, August 2024.Endothelial dysfunction is commonly linked to various disease states resulting from an imbalance in the production of vasodilators and vasoconstrictors, among other factors. Human diseases associated with endothelial dysfunction include atherosclerosis, diabetes, metabolic syndrome, neurodegenerative diseases, chronic kidney disease, hypertension ...
Xia Wang, Ben He
wiley +1 more source
Antioxidants, 2019 Congenital heart defects (CHDs) are the most prevalent and serious birth defect, occurring in 1% of all live births. Pregestational maternal diabetes is a known risk factor for the development of CHDs, elevating the risk in the child by more than four ...
Anish Engineer +3 more
doaj +1 more source
British Journal of Clinical Pharmacology, 2010 Eline A, Dubois, Adam F, Cohen
openaire +2 more sources
Changing dietary practices in phenylketonuria
The Turkish Journal of Pediatrics, 2009 In recent years, there has been much focus on research on non-dietary treatments in phenylketonuria (PKU). However, diet is likely to remain the major treatment for many years to come, since it has continued to be developed and consistent ...
Anita Macdonald +2 more
doaj
Frontiers in Medicine, 2019 Atherosclerosis and ensuing cardiovascular disease are major causes of death with insufficient treatment options. In search for pathomechanisms of atherosclerosis, we investigated the impact of the B2 bradykinin receptor, Bdkrb2, on atherosclerotic ...
Alexander Perhal +6 more
doaj +1 more source
Frontiers in Neuroscience, 2018 Autism spectrum disorder (ASD) affects about 1 in 45 individuals in the United States, yet effective treatments are yet to be defined. There is growing evidence that ASD is associated with abnormalities in several metabolic pathways, including the inter ...
Leanna M. Delhey +18 more
doaj +1 more source
PLoS ONE, 2016 BackgroundPhenylketonuria (PKU) is due to a defective hepatic enzyme, phenylalanine (Phe) hydroxylase. Transport of the precursor amino acids from blood into the brain for serotonin and dopamine synthesis is reported to be inhibited by high blood Phe ...
Shoji Yano +3 more
doaj +1 more source
Adjusting diet with sapropterin in phenylketonuria
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 ...
MacDonald, Anita +9 more
openaire +1 more source
A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation [PDF]
, 2013 Can Fıçıcıoğlu +7 more
openalex +1 more source