GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Arnold Reuser; Ans van der Ploeg; YH Chien; J Llerena; MA Abbott; PR Clemens; VE Kimonis; N Leslie; S S Maruti; BJ Sanson; R Araujo; M Periquet; A Toscano; PS Kishnani

doi:10.1002/humu.23878

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Arnold Reuser, Ans van der Ploeg, YH Chien, J Llerena, MA Abbott, PR Clemens, VE Kimonis, N Leslie, S S Maruti, BJ Sanson, R Araujo, M Periquet, A Toscano, PS Kishnani

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

35 Citations (Scopus)

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Original language	Undefined/Unknown
Journal	Human Mutation
DOIs	https://doi.org/10.1002/humu.23878
Publication status	Published - 2019

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Cite this

@article{794bbf2046ad49979c76c68021e2d720,

title = "GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry",

author = "Arnold Reuser and {van der Ploeg}, Ans and YH Chien and J Llerena and MA Abbott and PR Clemens and VE Kimonis and N Leslie and Maruti, {S S} and BJ Sanson and R Araujo and M Periquet and A Toscano and PS Kishnani",

year = "2019",

doi = "10.1002/humu.23878",

language = "Undefined/Unknown",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

}

TY - JOUR

T1 - GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

AU - Reuser, Arnold

AU - van der Ploeg, Ans

AU - Chien, YH

AU - Llerena, J

AU - Abbott, MA

AU - Clemens, PR

AU - Kimonis, VE

AU - Leslie, N

AU - Maruti, S S

AU - Sanson, BJ

AU - Araujo, R

AU - Periquet, M

AU - Toscano, A

AU - Kishnani, PS

PY - 2019

Y1 - 2019

U2 - 10.1002/humu.23878

DO - 10.1002/humu.23878

M3 - Article

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

ER -