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

T Rigter; Stephanie Weinreich; CG van El; Juna de Vries; Carin Gelder; Deniz Gungor; Arnold Reuser; Marloes Hagemans; MC Cornel; Ans van der Ploeg

doi: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, Stephanie Weinreich, CG van El, Juna de Vries, Carin Gelder, Deniz Gungor, Arnold Reuser, Marloes Hagemans, MC Cornel, Ans van der Ploeg

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

15 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	448-455
Number of pages	8
Journal	Molecular Genetics and Metabolism
Volume	107
DOIs	https://doi.org/10.1016/j.ymgme.2012.09.017
Publication status	Published - 2012

Research programs

EMC MGC-02-96-01
EMC MM-01-54-01
EMC MM-04-44-02

Access to Document

10.1016/j.ymgme.2012.09.017

http://hdl.handle.net/1765/38868

Cite this

Rigter, T., Weinreich, S., van El, CG., de Vries, J., Gelder, C., Gungor, D., Reuser, A., Hagemans, M., Cornel, MC., & van der Ploeg, A. (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, 448-455. https://doi.org/10.1016/j.ymgme.2012.09.017

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

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Rigter, T, Weinreich, S, van El, CG, de Vries, J, Gelder, C, Gungor, D, Reuser, A, Hagemans, M, Cornel, MC & van der Ploeg, A 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, 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, Stephanie

AU - van El, CG

AU - de Vries, Juna

AU - Gelder, Carin

AU - Gungor, Deniz

AU - Reuser, Arnold

AU - Hagemans, Marloes

AU - Cornel, MC

AU - van der Ploeg, Ans

PY - 2012

Y1 - 2012

U2 - 10.1016/j.ymgme.2012.09.017

DO - 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

ER -