Mass screening of the newborn for metabolic disease.
نویسندگان
چکیده
منابع مشابه
Mass screening of the newborn for metabolic disease.
Over large parts of the world all newborn infants are, in principle or in practice, examined by some biochemical technique for phenylketonuria. This revolutionary practice is barely 10 years old; it is worth considering how it started and why it has spread. Until the development of a dietary treatment, phenylketonuria was considered, like the other inborn errors of metabolism, a suitable subjec...
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BACKGROUND Neonatal screening programs for sickle cell disease are now widespread in North American and European countries. Most programs apply isoelectric focusing or HPLC to detect hemoglobin variants. Because tandem mass spectrometry (MS/MS) is being used for screening of inherited metabolic disorders and allows protein identification, it was worth testing for hemoglobinopathy screening. M...
متن کاملScreening of Newborn Infants for Metabolic Disease: Committee on Fetus and Newborn.
N OPPORTUNITY to establish screening procedures for case-finding in a numher of metabolic diseases now exists in the United States, because most infants are l)orn in hospitals where appropriate screening can easily be carried out. Case-finding in the neonatal period facilitates early inauguration of therapy, genetic counseling, and improved understanding of the natural history and incidence of ...
متن کاملScreening of Newborn Infants for Metabolic Disease Committee on Fetus and Newborn
N OPPORTUNITY to establish screening procedures for case-finding in a numher of metabolic diseases now exists in the United States, because most infants are l)orn in hospitals where appropriate screening can easily be carried out. Case-finding in the neonatal period facilitates early inauguration of therapy, genetic counseling, and improved understanding of the natural history and incidence of ...
متن کاملMedical Progress Newborn Screening for Metabolic Disorders
ur lives are often directed by chance occurrences. For Robert Guthrie, a lifelong interest in the cause of mental retardation came from a retarded son and a dedication to preventing mental retardation in phenylketonuria (PKU) came from the diagnosis of PKU in his wife’s mentally retarded niece. From these roots came Guthrie’s introduction f newborn screening for PKU 3 and, subsequently, to the ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1968
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.43.228.137