نتایج جستجو برای: early treated phenylketonuria etpku
تعداد نتایج: 1110023 فیلتر نتایج به سال:
OBJECTIVE Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment....
Objective To evaluate the relationship between circulating phenylalanine and brain function as well neuropsychiatric symptoms in adults with phenylketonuria. Methods In this prospective cross-sectional study, early-treated patients phenylketonuria older than 30 years age- sex-matched controls were included. Extensive neurologic evaluation, neuropsychological behavioral testing, sensory motor ev...
Insufficient treatment adherence after early childhood is frequently observed in patients with phenylketonuria. Assessment of these individuals' long-term metabolic control could enable early detection of the risk of intellectual deterioration resulting from high blood phenylalanine concentration. However, the predictive value of specific parameters related to individual dynamics of hyperphenyl...
Background: Phenylketonuria treatment based on phenylalanine-restricted diet has proven to be effective in preventing the development of long-term neurological damage. However, such diets have occasionally been reported to hinder normal development. Furthermore, to improve outcomes in these patients therapy based on administration of the cofactor BH4 has emerged. However, little is known about ...
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