Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Carine Capelle; Chris Meijden; Hannerieke van den Hout; J Jaeken; M Baethmann; T Voit; Marian Haan; TGJ Derks; ME Rubio-Gozalbo; MA Willemsen; RH Lachmann; E Mengel; H Michelakakis; Johan Jongste; Arnold Reuser; Ans van der Ploeg

doi:10.1186/s13023-016-0442-y

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Carine Capelle
, Chris Meijden
, Hannerieke van den Hout
, J Jaeken
, M Baethmann
, T Voit
, Marian Haan
, TGJ Derks
, ME Rubio-Gozalbo
, MA Willemsen
, RH Lachmann
, E Mengel
, H Michelakakis
, Johan Jongste
, Arnold Reuser
, Ans van der Ploeg

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

59 Citations (Scopus)

32 Downloads (Pure)

Original language	Undefined/Unknown
Journal	Orphanet Journal of Rare Diseases
Volume	11
DOIs	https://doi.org/10.1186/s13023-016-0442-y
Publication status	Published - 2016

Research programs

EMC MM-01-54-01
EMC OR-01-54-02

Access to Document

10.1186/s13023-016-0442-y

REPUB_90975_OA.pdfFinal published version, 1.71 MB

Cite this

Capelle, C., Meijden, C., van den Hout, H., Jaeken, J., Baethmann, M., Voit, T., Haan, M., Derks, TGJ., Rubio-Gozalbo, ME., Willemsen, MA., Lachmann, RH., Mengel, E., Michelakakis, H., Jongste, J., Reuser, A., & van der Ploeg, A. (2016). Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet Journal of Rare Diseases, 11. https://doi.org/10.1186/s13023-016-0442-y

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title = "Childhood Pompe disease: clinical spectrum and genotype in 31 patients",

author = "Carine Capelle and Chris Meijden and \{van den Hout\}, Hannerieke and J Jaeken and M Baethmann and T Voit and Marian Haan and TGJ Derks and ME Rubio-Gozalbo and MA Willemsen and RH Lachmann and E Mengel and H Michelakakis and Johan Jongste and Arnold Reuser and \{van der Ploeg\}, Ans",

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doi = "10.1186/s13023-016-0442-y",

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Capelle, C, Meijden, C, van den Hout, H, Jaeken, J, Baethmann, M, Voit, T, Haan, M, Derks, TGJ, Rubio-Gozalbo, ME, Willemsen, MA, Lachmann, RH, Mengel, E, Michelakakis, H, Jongste, J, Reuser, A & van der Ploeg, A 2016, 'Childhood Pompe disease: clinical spectrum and genotype in 31 patients', Orphanet Journal of Rare Diseases, vol. 11. https://doi.org/10.1186/s13023-016-0442-y

TY - JOUR

T1 - Childhood Pompe disease: clinical spectrum and genotype in 31 patients

AU - Capelle, Carine

AU - Meijden, Chris

AU - van den Hout, Hannerieke

AU - Jaeken, J

AU - Baethmann, M

AU - Voit, T

AU - Haan, Marian

AU - Derks, TGJ

AU - Rubio-Gozalbo, ME

AU - Willemsen, MA

AU - Lachmann, RH

AU - Mengel, E

AU - Michelakakis, H

AU - Jongste, Johan

AU - Reuser, Arnold

AU - van der Ploeg, Ans

PY - 2016

Y1 - 2016

U2 - 10.1186/s13023-016-0442-y

DO - 10.1186/s13023-016-0442-y

M3 - Article

SN - 1750-1172

VL - 11

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

ER -