Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

M. Kroos; R.J. Pomponio; L. Vliet; R.E. Palmer; M. Phipps; R. van der Helm; D. Halley; A. Reuser; H. Amartino; M. Baethmann; M Banikazemi; N van der Beek; G. de Jong; A. van der Ploeg; A. Bosch; B.J. Byrne; J. Charrow; J.P. Clancy; P.R. Clemens; V. Doppler; P. Laforêt; D.M. Escolar; A. Feigenbaum; M. Filocamo; A. Gadalla; C. Garabedian; G.F. Gray; E.S. Holmes; W.L. Hwu; K.M. Jaffe; P. Kishnani; T.J. de Koning; J.H.J. Wokke; N. Leslie; A.M. Lund; J.E. Mansson; L. van Maldergem; S. Kazue; N. Marie; G. Matthijs; I Mavridou; H. Michelakakis; N. Muntjewerff; P.J. Nelson; M. Nevins; A. Pestronk; B. Plecko; J. Rake; P. Rees; B. Rosenbloom; S.A. Smith; K. Storm; W. Wuyts; S. Tahmasebi; S.R. Ghaffari; M. Tarnopolsky; M. Taylor; P. Turnpenny; C. Verellen; J. van Hove; E. Wraith

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Translated title of the contribution: Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

M. Kroos, R.J. Pomponio, L. Vliet, R.E. Palmer, M. Phipps, R. van der Helm, D. Halley, A. Reuser, H. Amartino, M. Baethmann, M Banikazemi, N van der Beek, G. de Jong, A. van der Ploeg, A. Bosch, B.J. Byrne, J. Charrow, J.P. Clancy, P.R. Clemens, V. DopplerP. Laforêt, D.M. Escolar, A. Feigenbaum, M. Filocamo, A. Gadalla, C. Garabedian, G.F. Gray, E.S. Holmes, W.L. Hwu, K.M. Jaffe, P. Kishnani, T.J. de Koning, J.H.J. Wokke, N. Leslie, A.M. Lund, J.E. Mansson, L. van Maldergem, S. Kazue, N. Marie, G. Matthijs, I Mavridou, H. Michelakakis, N. Muntjewerff, P.J. Nelson, M. Nevins, A. Pestronk, B. Plecko, J. Rake, P. Rees, B. Rosenbloom, S.A. Smith, K. Storm, W. Wuyts, S. Tahmasebi, S.R. Ghaffari, M. Tarnopolsky, M. Taylor, P. Turnpenny, C. Verellen, J. van Hove, E. Wraith

Research output: Contribution to journal › Article › Academic

Translated title of the contribution	Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Original language	Undefined/Unknown
Pages (from-to)	E13-E26
Number of pages	14
Journal	Human Mutation
Volume	29
Issue number	6
Publication status	Published - 2008

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)

Access to Document

http://www3.interscience.wiley.com/journal/118720880/abstract

Cite this

Kroos, M., Pomponio, R. J., Vliet, L., Palmer, R. E., Phipps, M., van der Helm, R., Halley, D., Reuser, A., Amartino, H., Baethmann, M., Banikazemi, M., van der Beek, N., de Jong, G., van der Ploeg, A., Bosch, A., Byrne, B. J., Charrow, J., Clancy, J. P., Clemens, P. R., ... Wraith, E. (2008). Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Human Mutation, 29(6), E13-E26. http://www3.interscience.wiley.com/journal/118720880/abstract

@article{038ce3c7a049454095173267fdc84f18,

title = "Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK)",

author = "M. Kroos and R.J. Pomponio and L. Vliet and R.E. Palmer and M. Phipps and \{van der Helm\}, R. and D. Halley and A. Reuser and H. Amartino and M. Baethmann and M Banikazemi and \{van der Beek\}, N and \{de Jong\}, G. and \{van der Ploeg\}, A. and A. Bosch and B.J. Byrne and J. Charrow and J.P. Clancy and P.R. Clemens and V. Doppler and P. Lafor{\^e}t and D.M. Escolar and A. Feigenbaum and M. Filocamo and A. Gadalla and C. Garabedian and G.F. Gray and E.S. Holmes and W.L. Hwu and K.M. Jaffe and P. Kishnani and \{de Koning\}, T.J. and J.H.J. Wokke and N. Leslie and A.M. Lund and J.E. Mansson and \{van Maldergem\}, L. and S. Kazue and N. Marie and G. Matthijs and I Mavridou and H. Michelakakis and N. Muntjewerff and P.J. Nelson and M. Nevins and A. Pestronk and B. Plecko and J. Rake and P. Rees and B. Rosenbloom and S.A. Smith and K. Storm and W. Wuyts and S. Tahmasebi and S.R. Ghaffari and M. Tarnopolsky and M. Taylor and P. Turnpenny and C. Verellen and \{van Hove\}, J. and E. Wraith",

year = "2008",

language = "Undefined/Unknown",

volume = "29",

pages = "E13--E26",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley \& Sons Inc.",

number = "6",

}

Kroos, M, Pomponio, RJ, Vliet, L, Palmer, RE, Phipps, M, van der Helm, R, Halley, D, Reuser, A, Amartino, H, Baethmann, M, Banikazemi, M, van der Beek, N, de Jong, G, van der Ploeg, A, Bosch, A, Byrne, BJ, Charrow, J, Clancy, JP, Clemens, PR, Doppler, V, Laforêt, P, Escolar, DM, Feigenbaum, A, Filocamo, M, Gadalla, A, Garabedian, C, Gray, GF, Holmes, ES, Hwu, WL, Jaffe, KM, Kishnani, P, de Koning, TJ, Wokke, JHJ, Leslie, N, Lund, AM, Mansson, JE, van Maldergem, L, Kazue, S, Marie, N, Matthijs, G, Mavridou, I, Michelakakis, H, Muntjewerff, N, Nelson, PJ, Nevins, M, Pestronk, A, Plecko, B, Rake, J, Rees, P, Rosenbloom, B, Smith, SA, Storm, K, Wuyts, W, Tahmasebi, S, Ghaffari, SR, Tarnopolsky, M, Taylor, M, Turnpenny, P, Verellen, C, van Hove, J & Wraith, E 2008, 'Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.', Human Mutation, vol. 29, no. 6, pp. E13-E26. <http://www3.interscience.wiley.com/journal/118720880/abstract>

TY - JOUR

T1 - Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

AU - Kroos, M.

AU - Pomponio, R.J.

AU - Vliet, L.

AU - Palmer, R.E.

AU - Phipps, M.

AU - van der Helm, R.

AU - Halley, D.

AU - Reuser, A.

AU - Amartino, H.

AU - Baethmann, M.

AU - Banikazemi, M

AU - van der Beek, N

AU - de Jong, G.

AU - van der Ploeg, A.

AU - Bosch, A.

AU - Byrne, B.J.

AU - Charrow, J.

AU - Clancy, J.P.

AU - Clemens, P.R.

AU - Doppler, V.

AU - Laforêt, P.

AU - Escolar, D.M.

AU - Feigenbaum, A.

AU - Filocamo, M.

AU - Gadalla, A.

AU - Garabedian, C.

AU - Gray, G.F.

AU - Holmes, E.S.

AU - Hwu, W.L.

AU - Jaffe, K.M.

AU - Kishnani, P.

AU - de Koning, T.J.

AU - Wokke, J.H.J.

AU - Leslie, N.

AU - Lund, A.M.

AU - Mansson, J.E.

AU - van Maldergem, L.

AU - Kazue, S.

AU - Marie, N.

AU - Matthijs, G.

AU - Mavridou, I

AU - Michelakakis, H.

AU - Muntjewerff, N.

AU - Nelson, P.J.

AU - Nevins, M.

AU - Pestronk, A.

AU - Plecko, B.

AU - Rake, J.

AU - Rees, P.

AU - Rosenbloom, B.

AU - Smith, S.A.

AU - Storm, K.

AU - Wuyts, W.

AU - Tahmasebi, S.

AU - Ghaffari, S.R.

AU - Tarnopolsky, M.

AU - Taylor, M.

AU - Turnpenny, P.

AU - Verellen, C.

AU - van Hove, J.

AU - Wraith, E.

PY - 2008

Y1 - 2008

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

M3 - Article

SN - 1059-7794

VL - 29

SP - E13-E26

JO - Human Mutation

JF - Human Mutation

IS - 6

ER -