نتایج جستجو برای: phenylketonuria
تعداد نتایج: 2147 فیلتر نتایج به سال:
Background and Aim: Phenylketonuria (PKU., OMIM261600) is the most common genetic disorder autosomal recessive mode of inheritance and the metabolism of amino-acids, which is due to deficiency of the liver enzyme phenylalanine - hydroxylase as a result of mutations in the gene encoding it is achieved. The present study aimed at investigating the incidence of PKU n the South Khorasan province b...
Introduction: Phenylketonuria is one of the most common autosomal recessive metabolic diseases, characterized by a wide range of neuropsychological and neurocognitive disorders. Without proper care, control, and management, this disease can lead to severe mental retardation and neurobehavioral disorders. Therefore, the objective of this study was to design and develop a Minimum Data Set (MDS) f...
Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his appr...
Cranial MR imaging was performed on nine patients (13-27 years old) with classical phenylketonuria in order to define the spectrum of abnormal findings and to determine if these could be related to clinical or biochemical findings. MR abnormalities consistent with demyelination were found in varying degrees in a distribution corresponding to previous histopathologic studies. Specifically, incre...
OBJECTIVE To describe patient selection, treatment administration, response evaluation, and side effect management associated with sapropterin therapy in infants and children aged <4 years. STUDY DESIGN Six case reports are presented from 4 US metabolic clinics treating phenylketonuria with sapropterin in patients aged 7 months to 4 years. Outcomes included blood phenylalanine (Phe) levels be...
The Guthrie test, also called the PKU test, is a diagnostic tool to test infants for phenylketonuria a few days after birth. To administer the Guthrie test, doctors use Guthrie cards to collect capillary blood from an infant's heel, and the cards are saved for later testing. Robert Guthrie invented the test in 1962 in Buffalo, New York. Phenylketonuria (PKU) is a congenital birth abnormality in...
METHOD for collection of urine from infants onto squares of filter paper was described as part of a program for early detection of phenylketonuria (1). These urine papers have proved extremely versatile as an aid to testing urine for a number of substances that are excreted as a result of certain metabolic defects, all easily detectable by simple means. Phenylpyruvic acid, phenylalanine, and oh...
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