Author's response to reviews Title:Fragile X protein in newborn dried blood spots: implications for newborn screening Authors:
نویسندگان
چکیده
Tatyana Adayev ([email protected]) Giuseppe LaFauci ([email protected]) Carl Dobkin ([email protected]) Michele Caggana ([email protected]) Veronica Wiley ([email protected]) Michael Field ([email protected]) Tiffany Wotton ([email protected]) Richard Kascsak ([email protected]) Sarah Nolin ([email protected]) Anne Glicksman ([email protected]) Nicole D Hosmer ([email protected]) William T Brown ([email protected])
منابع مشابه
Exploring existing and deliberated community perspectives of newborn screening: informing the development of state and national policy standards in newborn screening and the use of dried blood spots
OBJECTIVE Since the 1960s newborn screening (NBS) for several rare and serious disorders has been in place across Australia. Testing of a simple blood spot now enables the early detection of over 30 conditions. Policies across Australian states have diverged in some aspects of NBS, especially in the retention and further use of dried blood spots collected as part of the screening and attempts a...
متن کاملDirect multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
BACKGROUND Newborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann-Pick A/B, and Pompe diseases is warranted because treatment for these syndromes is now available or anticipated in the near feature. We describe a multiplex screening method for all five lysosomal enzymes that uses newborn-screening cards containing dried blood spots as the enzyme sou...
متن کاملImmunoquantification of -Galactosidase: Evaluation for the Diagnosis of Fabry Disease
Background: Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from a deficiency of the lysosomal exoglycohydrolase, -galactosidase. Enzyme replacement therapy is currently available for Fabry disease, but early diagnosis before the onset of irreversible pathology will be mandatory for successful treatment. Presymptomatic detection would be possible through the ...
متن کاملTandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
BACKGROUND A treatment for mucopolysaccharidosis II (Hunter syndrome) has recently become available. Therefore, we developed a high-throughput assay method appropriate for newborn screening for the relevant enzyme, iduronate 2-sulfatase. METHODS We synthesized a new iduronate 2-sulfatase substrate that can be used to assay the enzyme by use of tandem mass spectrometry together with an interna...
متن کاملRAPID COMMUNICATION Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy
Objective: Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing. Methods: A fluorometric assay based upon the...
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تاریخ انتشار 2014