Childhood Pompe disease: Clinical spectrum and genotype in 31 patients
- Capelle, C.I. (Carine) van
- Meijden, J.C. (Chris) van der
- Hout, J.M.P. (Johanna) van den
- Jaeken, J.
- Baethmann, M.
- Voit, T.
- Kroos, M.A. (Marian)
- Derks, T.G.J. (Terry G J)
- Rubio-Gozalbo, M.E. (Estela)
- Willemsen, M.A. (Michél)
- Lachmann, R. (Robin)
- Mengel, E.
- Michelakakis, H. (Helen)
- Jongste, J.C. (Johan) de
- Reuser, A.J.J. (Arnold)
- Ploeg, A.T. (Ans) van der
Publication date
May 2016
DOI Publisher
Springer Science and Business Media LLCAbstract
Background: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical character
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