نتایج جستجو برای: early treated phenylketonuria etpku

تعداد نتایج: 1110023  

Journal: :Neuropsychology 2017
Rianne Jahja Stephan C J Huijbregts Leo M J de Sonneville Jaap J van der Meere Amanda M Legemaat Annet M Bosch Carla E M Hollak M Estela Rubio-Gozalbo Martijn C G J Brouwers Floris C Hofstede Maaike C de Vries Mirian C H Janssen Ans T van der Ploeg Janneke G Langendonk Francjan J van Spronsen

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....

Journal: :Neurology 2021

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...

Journal: :Acta biochimica Polonica 2017
Bożena Didycz Mirosław Bik-Multanowski

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...

2016
Luis Aldámiz-Echevarría Marta Llarena Fernando Andrade María L. Couce Domingo González Lamuño María A. Bueno

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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