نتایج جستجو برای: phenylketonuria

تعداد نتایج: 2147  

Journal: :British medical journal 1975
J L Burton S K Goolamali S Shuster

The sebum excretion rate has been found to be increased in female patients with phenylketonuria. This may be related to a depletion of midbrain dopamine and release of the sebotrophic hormone.

Journal: :Molecular genetics and metabolism 2010
Leo M J de Sonneville Stephan C J Huijbregts Francjan J van Spronsen Paul H Verkerk Joseph A Sergeant Robert Licht

This study focused on important characteristics of attentional (selective) processing in children with early-treated phenylketonuria (PKU). Seven to 14-year-old children with PKU were allocated to high phenylalanine (Phe) and low Phe groups and compared with control children on amplitudes and latencies of early and late event-related potential (ERP) components elicited during a selective proces...

Journal: :Advances in Bioscience and Clinical Medicine 2018

Journal: :Archives of Disease in Childhood 1958

Journal: :Przeglad lekarski 2011
Mirosław Bik-Multanowski Jacek J Pietrzyk

Phenylketonuria is the most common inborn error of metabolism. Adult patients often discontinue dietary treatment and can subsequently develop serious brain dysfunction. Some of them, however, do not present any symptoms, despite long-term exposition to high blood phenylalanine concentration. As the extent of brain toxicity of hyperphenylalaninemia is not clear in adults, new diagnostic methods...

Journal: :Jornal de pediatria 2012
Michelle R A Alves Ana L P Starling Viviane C Kanufre Rosângelis D L Soares Rocksane de C Norton Marcos J B Aguiar José N Januario

OBJECTIVE To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria. METHODS The study prospectively evaluated 54 children with phenylketonuria, from 4 to10 years old. The study was performed before and after the use of a selenium-supplemented amino acid mixture. The second phase of the study was performed after, at least, 90 days of use of the supplementatio...

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...

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