Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
- Winchester, B.
- Bali, D.
- Bodamer, O.A.
- Caillaud, C.
- Christensen, E.
- Cooper, A.
- Cupler, E.
- Deschauer, M.
- Fumic, K.
- Jackson, M.
- Kishnani, P.
- Lacerda, L.
- Ledvinova, J.
- Lugowska, A.
- Lukacs, Z.
- Maire, I.
- Mandel, H.
- Mengel, E.
- Muller-Felber, W.
- Piraud, M.
- Reuser, A.
- Rupar, T.
- Sinigerska, I.
- Szlago, M.
- Verheijen, F.
- Van Diggelen, O.P.
- Wuyts, Brigitte
- Zakharova, E.
- Keutzer, J.
DOIAbstract
pompe disease; glycogen storage disease type II; acid maltase deficiency; diagnosis; lysosomal acid alpha-glucosidase; enzyme assay; acarbose ACID ALPHA-GLUCOSIDASE; DRIED BLOOD SPOTS; LYSOSOMAL STORAGE DISORDERS; NATURAL COURSE; INFANTILE; TETRASACCHARIDE; ASSAY; LEUKOCYTES; LYMPHOCYTES; FREQUENC
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