The political history of PKU: reflections on 50 years of newborn screening.
نویسندگان
چکیده
Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida; and University of Massachusetts Boston, Boston, Massachusetts; Museum of Comparative Zoology, Harvard University, Cambridge, Massachusetts. Address correspondence to Jeffrey P. Brosco, MD, PhD, Department of Pediatrics, University of Miami Miller School of Medicine, PO Box 016820, Miami, FL 33101. E-mail: [email protected]
منابع مشابه
Characteristics of patients with phenylketonuria in Mazandaran Province, northern, Iran
Background: Phenylketonuria (PKU) is an autosomal recessive disease of Phenylalanine metabolism that brings deficiency of the enzyme Phenylalanine Hydroxylase (PAH). Early diagnosis is very important to prevent complications. This study was designed to describe characteristics of patients with phenylketonuria in Mazandaran Province in northern Iran. Methods: We studied 24 cases suffering from P...
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Screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) is of concern to parents, physicians, and public health professionals. Parents have an abiding interest in a predictive activity that can prevent disease in their offspring. Physicians and their consultants must counsel parents and interpret a positive screening test. Public health personnel are concerned with the specificit...
متن کاملNewborn screening and related policy against Phenylketonuria in China.
Phenylketonuria (PKU) is a treatable and preventable inherited metabolic disease. The overall incidence of PKU in China is 1/11,144. Newborn screening is an effective method of controlling PKU. In1981, the Chinese Government initiated a newborn screening program and the number of newborns screened for PKU in China has risen each year. This review describes the current status of laws and regulat...
متن کاملThe Effect of Previous History of PKU on the Average Detection Age of Sibs and Close Relatives
SUMMARY In this paper the effect of previous history of PKU in sibs and close relatives on the average age of the disease detection is studied . To find out the effect of the previous case of PKU on the detection age of her I his younger sibs, the population of 93 PKU patients were divided into 2 distinct group-I includes 63 patiens, that are the only or the first PKU children of their pare...
متن کاملScreening for Phenylketonuria
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...
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ورودعنوان ژورنال:
- Pediatrics
دوره 132 6 شماره
صفحات -
تاریخ انتشار 2013