Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

T. Rigter; S.S. Weinreich; C.G. van El; J.M. de Vries; C.M. van Gelder; D. Gungor; A.J.J. Reuser; M.L.C. Hagemans; M.C. Cornel; A.T. van der Ploeg

doi:https://doi.org/10.1016/j.ymgme.2012.09.017

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

T. Rigter, S.S. Weinreich, C.G. van El, J.M. de Vries, C.M. van Gelder, D. Gungor, A.J.J. Reuser, M.L.C. Hagemans, M.C. Cornel, A.T. van der Ploeg

Human Genetics (VUmc)

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

14 Citations (Scopus)

Original language	English
Pages (from-to)	448-455
Journal	Molecular Genetics and Metabolism
Volume	107
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2012.09.017
Publication status	Published - 2012

Access to Document

https://doi.org/10.1016/j.ymgme.2012.09.017

Cite this

Rigter, T., Weinreich, S. S., van El, C. G., de Vries, J. M., van Gelder, C. M., Gungor, D., Reuser, A. J. J., Hagemans, M. L. C., Cornel, M. C., & van der Ploeg, A. T. (2012). Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening. Molecular Genetics and Metabolism, 107(3), 448-455. https://doi.org/10.1016/j.ymgme.2012.09.017

@article{a26bba49b38d4795b06b9e0bfe481815,

title = "Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening",

author = "T. Rigter and S.S. Weinreich and {van El}, C.G. and {de Vries}, J.M. and {van Gelder}, C.M. and D. Gungor and A.J.J. Reuser and M.L.C. Hagemans and M.C. Cornel and {van der Ploeg}, A.T.",

year = "2012",

doi = "https://doi.org/10.1016/j.ymgme.2012.09.017",

language = "English",

volume = "107",

pages = "448--455",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "3",

}

Rigter, T, Weinreich, SS, van El, CG, de Vries, JM, van Gelder, CM, Gungor, D, Reuser, AJJ, Hagemans, MLC, Cornel, MC & van der Ploeg, AT 2012, 'Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 448-455. https://doi.org/10.1016/j.ymgme.2012.09.017

TY - JOUR

T1 - Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

AU - Rigter, T.

AU - Weinreich, S.S.

AU - van El, C.G.

AU - de Vries, J.M.

AU - van Gelder, C.M.

AU - Gungor, D.

AU - Reuser, A.J.J.

AU - Hagemans, M.L.C.

AU - Cornel, M.C.

AU - van der Ploeg, A.T.

PY - 2012

Y1 - 2012

U2 - https://doi.org/10.1016/j.ymgme.2012.09.017

DO - https://doi.org/10.1016/j.ymgme.2012.09.017

M3 - Article

C2 - 23040796

SN - 1096-7192

VL - 107

SP - 448

EP - 455

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -