Neonatal Screening for Inborn Errors of Metabolism
نویسندگان
چکیده
منابع مشابه
Newborn Screening for Inborn Errors of Metabolism in Saskatchewan
In Saskatchewan all babies are screened for approximately 30 metabolic disorders. The newborn screen includes testing for several amino acid disorders, organic acid disorders, fatty acid disorders, endocrine disorders and a few other inherited metabolic conditions. Methods of detection include tandem mass spectrometry, immunoassays using fluorescent detection and spectrophotometric techniques. ...
متن کاملNeonatal screening for inborn errors of metabolism: cost, yield and outcome.
OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs and benefits of introducing screening based on tandem mass-spectrometry (tandem MS) for a wide range of disorders of amino acid and organic acid metabolism in the UK. To evaluate screening for cystic fibrosis, Duchenne muscular ...
متن کاملScreening for inborn errors of amino acid metabolism.
Early diagnosis and treatment may prevent brain damage and mental retardation in young infants with inborn errors of amino acid metabolism. The abnormal blood and urinary amino acids and their metabolites are listed in two separate tables in association with each disorder to aid laboratories in making a diagnosis during screening. Because of recent developments and discoveries, more detailed de...
متن کاملNeonatal neuroimaging findings in inborn errors of metabolism.
Individually, metabolic disorders are rare, but overall they account for a significant number of neonatal disorders affecting the central nervous system. The neonatal clinical manifestations of inborn errors of metabolism (IEMs) are characterized by nonspecific systemic symptoms that may mimic more common acute neonatal disorders like sepsis, severe heart insufficiency, or neonatal hypoxic-isch...
متن کاملIsolated neonatal seizures: when to suspect inborn errors of metabolism.
Neonatal seizures are common, and often comprise the first clinical indicator of central nervous system dysfunction. Although most neonatal seizures are secondary to processes such as hypoxic-ischemic injury, infection, or cortical malformations (which are readily identifiable through routine testing and imaging), seizures secondary to inborn errors of metabolism can be much more difficult to d...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 1981
ISSN: 0014-5793
DOI: 10.1016/0014-5793(81)80692-8