TY - JOUR
T1 - Newborn screening for lysosomal storage disorders
AU - Matern, Dietrich
AU - Gavrilov, Dimitar
AU - Oglesbee, Devin
AU - Raymond, Kimiyo
AU - Rinaldo, Piero
AU - Tortorelli, Silvia
N1 - Publisher Copyright:
© 2015 Elsevier Inc.
PY - 2015/4/1
Y1 - 2015/4/1
N2 - Every newborn in the U.S. is screened for at least 29 disorders, where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion in newborn screening programs. Among those are several lysosomal storage disorders that have been evaluated in limited pilot studies or that are already included in a few national or international newborn screening programs. These conditions include Pompe disease, Niemann-Pick type A/B disease, Fabry disease, Krabbe disease, Mucopolysaccharidoses types I and II, and Gaucher disease. Here, we review the current state of newborn screening for these lysosomal storage disorders.
AB - Every newborn in the U.S. is screened for at least 29 disorders, where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion in newborn screening programs. Among those are several lysosomal storage disorders that have been evaluated in limited pilot studies or that are already included in a few national or international newborn screening programs. These conditions include Pompe disease, Niemann-Pick type A/B disease, Fabry disease, Krabbe disease, Mucopolysaccharidoses types I and II, and Gaucher disease. Here, we review the current state of newborn screening for these lysosomal storage disorders.
KW - Dried blood spots
KW - Immunoquantification
KW - Lysosomal storage disorders
KW - Newborn screening
KW - Tandem mass spectrometry
UR - http://www.scopus.com/inward/record.url?scp=84929702133&partnerID=8YFLogxK
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U2 - 10.1053/j.semperi.2015.03.005
DO - 10.1053/j.semperi.2015.03.005
M3 - Review article
C2 - 25891428
AN - SCOPUS:84929702133
SN - 0146-0005
VL - 39
SP - 206
EP - 216
JO - Seminars in Perinatology
JF - Seminars in Perinatology
IS - 3
ER -