Results 111 to 120 of about 2,204 (208)
Sapropterin (BH4) aggravates autoimmune encephalomyelitis in mice [PDF]
Katja Schmitz+12 more
openalex +1 more source
Dietary intervention in the management of phenylketonuria: current perspectives
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
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
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
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]
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
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]
Lisa Pan+7 more
openalex +2 more sources
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