Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance
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...
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 ...
متن کاملNewborn Screening for Pompe Disease.
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good c...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2021
ISSN: 2296-2360
DOI: 10.3389/fped.2020.623184