Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease
J Neuromuscul Dis
.
2015;2(s1):S53.
Authors
M Sacchini
1
,
E Procopio
1
,
E Pasquini
1
,
F Pochiero
1
,
D Ombrone
2
,
G LaMarca
2
,
S Catarzi
3
,
A Morrone
3
,
M A Donati
1
Affiliations
1
Metabolic and Muscular Unit, Neurosciences Department, Meyer Children's Hospital, Florence, Italy.
2
Newborn Screening, Clinical Chemistry and Pharmacology Laboratory, Neurosciences Department, Meyer Children's Hospital, Florence, Italy.
3
Laboratory of Molecular and Cell Biology, Meyer Children's Hospital, Florence, Italy.
PMID:
27858645
No abstract available