نتایج جستجو برای: phenylketonurias
تعداد نتایج: 791 فیلتر نتایج به سال:
The clinical, nutritional, and neuropsychological data of 11 mild/moderate PKU patients after one year of treatment with BH4 are evaluated. BH4 monotherapy was introduced at 5 mg/kg/day in 14 PKU patients. In 11/14 patients, Phe tolerance increased significantly from 356+/-172 to 1546+/-192 mg/day (p=0.004), and special PKU formula was gradually reduced until complete removal. In them, mean pla...
A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy. The lack of nausea and vomiting during the first trimester suggests that the occurrence of CHD in babies...
Visual event-related potentials (ERPs) were examined in 16 children (aged 5-14 y) with phenylketonuria (PKU) and 16 age- and sex-matched controls. Lifetime median measures of phenylalanine (Phe) were 230-460 micromol/l. The most recent Phe levels were 56-624 micromol/l. ERPs were recorded whilst the children performed a discrimination task. All stimuli were square wave gratings degree, which ap...
BACKGROUND The aim of the study was to assess both patients' and their parents' knowledge of phenylketonuria (PKU) treatment and compliance with PKU diet. METHODS The study included 173 PKU patients aged 10-19 and 110 parents of PKU children who were enrolled in the study on the basis of questionnaire data. The study also included 45 patients aged ≥20. RESULTS Our study demonstrated that on...
Limitation of family size after the birth of a child with a serious disorder poses a problem in demonstrating autosomal recessive inheritance. In this paper methods are presented for distinguishing autosomal recessive inheritance given a 100% deterrent effect, and revealing a partial deterrent effect by analysis of sibship size and comparison with general population data. These methods are illu...
Galactosaemia, phenylketonuria and homocystinuria are inborn errors of metabolism as the term was defined by Garrod (1908). I n all three lack of an enzyme causes a metabolic block and accumulation of the substrate of the missing enzyme, and all three are inherited as Mendelian recessive characters. Unlike Garrod's original examples, galactosaemia, phenylketonuria and homocystinuria are often a...
Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Newborn screening (NBS) began 50 years ago with the ability to screen for phenylketonuria from dried-blood spots and prevent long-term disability through dietary intervention. Now nearly all of the 4 million infants born in the United States are screened for a wide array of significant medical conditions by using dried-blood spots and pointof-care tests, leading to early diagnosis and treatment...
N his studies of the eyeless mutation of Drosophila melanogaster, MORGAN I(1929) showed that penetrance and expressivity of this gene was dependent upon the environment, since the frequency and extent of the defect was different for flies hatching early or late during the life of a culture. He also demonstrated that both aspects of gene manifestation could be altered by selection. These consequ...
Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of blood phenylalanine levels upon oral administration of the PAH cofactor tetrahydrobiopterin [(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4)]. Several hypotheses have been put forward to explain BH4 responsiveness, but the molecular basis for the corrective effect(s) of...
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