Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease
نویسندگان
چکیده
منابع مشابه
Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Institute of Environmental and Occupational Health Sciences, National Yang-Ming University Depts. of Chemistry and Biochemistry, University of Washington, Seattle, WA 9...
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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Sir while we have no issues with the data presented in the Letter to the Editor [1], we are compelled to give an alternative conclusion. The majority of newborn labs set their own screen cutoffs, and Illinois uses much higher cutoffs than Missouri. It is only meaningful to compare the number of below-cutoff enzyme activity samples with the use of equivalent cutoffs [2–4]. For example, for mucop...
متن کاملNewborn screening for sickle cell disease using tandem mass spectrometry.
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...
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ickle cell disease is a global health problem that ffects > 300,000 newborns per year, predominantly in Subaharan Africa,1 where mortality is estimated to be > 50% y age 5 years for those with homozygous hemoglobin S HbSS).1 In Brazil, there are estimated to be > 30,000 indiiduals with sickle cell disease and 2,500 newborns per ear, making this the most common genetic disorder in the ountry.2 A...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2017
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2016.269027