Results 111 to 120 of about 2,204 (208)

Sapropterin (BH4) aggravates autoimmune encephalomyelitis in mice [PDF]

open access: green, 2020
Katja Schmitz   +12 more
openalex   +1 more source

Dietary intervention in the management of phenylketonuria: current perspectives

open access: yesPediatric Health, Medicine and Therapeutics, 2016
Júlio César Rocha,1-3 Anita MacDonald4 1Centro de Genética Médica, Centro Hospitalar do Porto – CHP, 2Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, 3Center for Health Technology and Services ...
Rocha JC, MacDonald A
doaj  

The financial and time burden associated with phenylketonuria treatment in the United States

open access: yesMolecular Genetics and Metabolism Reports, 2019
Background: Phenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition.
Angela M. Rose   +6 more
doaj  

Changing dietary practices in phenylketonuria

open access: yesThe 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  

Increased Reactive Oxygen Species Generation Contributes to the Atherogenic Activity of the B2 Bradykinin Receptor

open access: yesFrontiers 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

Dietary compliance during bh4 loading test in patients with phenylketonuria [PDF]

open access: yes, 2017
In Phenylketonuria (PKU), prior to BH4 treatment, a loading test (BH4-LT) is usually necessary to determine responsiveness. The Portuguese Society of Metabolic Disorders advocate a 72h BH4-LT.
Mina, Beatriz Aguiar Pinto
core  

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

open access: hybrid, 2021
Susan E. Waisbren   +9 more
openalex   +1 more source

Comparison of Treatment for Metabolic Disorders Associated with Autism:Reanalysis of Three Clinical Trials

open access: yesFrontiers 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

GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour [PDF]

open access: green, 2011
Lisa Pan   +7 more
openalex   +2 more sources

Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters.

open access: yesPLoS 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

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