نتایج جستجو برای: phenylketonurias
تعداد نتایج: 791 فیلتر نتایج به سال:
COMMITTEE ON THE HANDICAPPED CHILD I N RESPONSE to many requests from mdividuals and agencies, the following statement on the present status of treatment of phenylketonuria (PKU) has been prepared. The Committee on Fetus and Newborn has reviewed the present status of neonatal screening for inborn errors of metabolism (e.g., PKIJ and related problems) and is reporting separately. There is consid...
The laboratory mouse represents an important model for the study of phenylalanine metabolism and the pathochemistry of phenylketonuria, yet mouse phenylalanine hydroxylase (PAH) has not been extensively studied. We report the cloning and sequencing of a mouse PAH cDNA, the expression of enzymic activity from the mouse PAH cDNA clone and the identification of mouse PAH and human PAH by two-dimen...
Phenylketonuria (PKU; OMIN 261600 and 261630) is an autosomal recessive geneticmetabolic disease. It is one of the most common of over 200 known such diseases, at least 30 of which have treatments to ameliorate the adverse effects. PKU is one of the first diseases causing mental and physical disability for which successful treatment has been developed. The cause of PKU is defective function of ...
Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A...
A patient with atypical phenylketonuria (defective BH2 synthesis), detected at age 6 months because of severe muscle hypotonia and serum phenylalanine of 20 mg/100 ml, had normal activities of phenylalanine-4-hydroxylase and DHPR in liver biopsy, but only 2% activity in the phenylalanine-4-hyroxylase in vivo test using deuterated phenylalanine. After IV administration of 2.5 mg/kg chemically pu...
OBJECTIVE To examine resolution of the diagnosis among parents of children with phenylketonuria (PKU) as a mechanism of adjustment for parents and children. METHODS Reaction to diagnosis interviews were conducted with 52 mothers and 47 fathers of 55 children with PKU aged 2-12 years. The parents also completed questionnaires assessing their personal adjustment (stress symptoms), their child's...
The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem ...
Turkey is among the most populous countries of the world, and has a young population structure. The rate of consanguinity has been approximately 20-25% for the last 25 years. Various studies have shown that high consanguinity can be a contributing factor to the high incidence of some rare autosomal recessive diseases. Hemoglobinopathies are an important health problem, and Turkey also has one o...
Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as "responders." Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders, cognitive and neural differences remain largely unexplored. To this end, we compared intelligen...
One major contribution of neuroscience to understanding cognitive development has been in demonstrating that biology is not destiny—that is, demonstrating the remarkable role of experience in shaping the mind, brain, and body. Only rarely has neuroscience provided wholly new insights into cognitive development, but often it has provided evidence of mechanisms by which observations of developmen...
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