Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

B Winchester; D Bali; OA Bodamer; C Caillaud; E Christensen; A Cooper; E Cupler; M Deschauer; K Fumic; M Jackson; P Kishnani; L Lacerda; J Ledvinova; A Lugowska; Z Lukacs; I Maire; H Mandel; E Mengel; W Muller-Felber; M Piraud; Arnold Reuser; T Rupar; I Sinigerska; M Szlago; Frans Verheijen; Otto Diggelen; B Wuyts; E Zakharova; J Keutzer

doi:10.1016/j.ymgme.2007.09.006

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

B Winchester, D Bali, OA Bodamer, C Caillaud, E Christensen, A Cooper, E Cupler, M Deschauer, K Fumic, M Jackson, P Kishnani, L Lacerda, J Ledvinova, A Lugowska, Z Lukacs, I Maire, H Mandel, E Mengel, W Muller-Felber, M PiraudArnold Reuser, T Rupar, I Sinigerska, M Szlago, Frans Verheijen, Otto Diggelen, B Wuyts, E Zakharova, J Keutzer

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

125 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	275-281
Number of pages	7
Journal	Molecular Genetics and Metabolism
Volume	93
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2007.09.006
Publication status	Published - 2008

Research programs

EMC MGC-02-96-01

Access to Document

10.1016/j.ymgme.2007.09.006

http://hdl.handle.net/1765/30118

Cite this

Winchester, B., Bali, D., Bodamer, OA., 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., ... Keutzer, J. (2008). Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting. Molecular Genetics and Metabolism, 93(3), 275-281. https://doi.org/10.1016/j.ymgme.2007.09.006

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Winchester, B, Bali, D, Bodamer, OA, 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, Diggelen, O, Wuyts, B, Zakharova, E & Keutzer, J 2008, 'Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting', Molecular Genetics and Metabolism, vol. 93, no. 3, pp. 275-281. https://doi.org/10.1016/j.ymgme.2007.09.006

TY - JOUR

T1 - Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

AU - Winchester, B

AU - Bali, D

AU - Bodamer, OA

AU - Caillaud, C

AU - Christensen, E

AU - Cooper, A

AU - Cupler, E

AU - Deschauer, M

AU - Fumic, K

AU - Jackson, M

AU - Kishnani, P

AU - Lacerda, L

AU - Ledvinova, J

AU - Lugowska, A

AU - Lukacs, Z

AU - Maire, I

AU - Mandel, H

AU - Mengel, E

AU - Muller-Felber, W

AU - Piraud, M

AU - Reuser, Arnold

AU - Rupar, T

AU - Sinigerska, I

AU - Szlago, M

AU - Verheijen, Frans

AU - Diggelen, Otto

AU - Wuyts, B

AU - Zakharova, E

AU - Keutzer, J

PY - 2008

Y1 - 2008

U2 - 10.1016/j.ymgme.2007.09.006

DO - 10.1016/j.ymgme.2007.09.006

M3 - Article

C2 - 18078773

SN - 1096-7192

VL - 93

SP - 275

EP - 281

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -