Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Stijn in 't Groen; Douglas Oliveira Soares de Faria; Alessandro Iuliano; Hannerieke van den Hout; Hannie Douben; T Dijkhuizen; D Cassiman; P Witters; MÁ Barba Romero; Annelies de Klein; Galhana Somers - Bolman; Jasper Saris; EH Hoefsloot; Ans van der Ploeg; Atze Bergsma; Pim Pijnappel

doi:10.1016/j.omtm.2019.12.016

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Stijn in 't Groen, Douglas Oliveira Soares de Faria, Alessandro Iuliano, Hannerieke van den Hout, Hannie Douben, T Dijkhuizen, D Cassiman, P Witters, MÁ Barba Romero, Annelies de Klein, Galhana Somers - Bolman, Jasper Saris, EH Hoefsloot, Ans van der Ploeg, Atze Bergsma, Pim Pijnappel

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

6 Citations (Scopus)

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Original language	English
Pages (from-to)	337-348
Number of pages	12
Journal	Molecular Therapy - Methods and Clinical Development
Volume	17
DOIs	https://doi.org/10.1016/j.omtm.2019.12.016
Publication status	Published - 2020

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in 't Groen, S., Oliveira Soares de Faria, D., Iuliano, A., van den Hout, H., Douben, H., Dijkhuizen, T., Cassiman, D., Witters, P., Barba Romero, MÁ., de Klein, A., Somers - Bolman, G., Saris, J., Hoefsloot, EH., van der Ploeg, A., Bergsma, A., & Pijnappel, P. (2020). Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis. Molecular Therapy - Methods and Clinical Development, 17, 337-348. https://doi.org/10.1016/j.omtm.2019.12.016

in 't Groen, Stijn ; Oliveira Soares de Faria, Douglas ; Iuliano, Alessandro ; van den Hout, Hannerieke ; Douben, Hannie ; Dijkhuizen, T ; Cassiman, D ; Witters, P ; Barba Romero, MÁ ; de Klein, Annelies ; Somers - Bolman, Galhana ; Saris, Jasper ; Hoefsloot, EH ; van der Ploeg, Ans ; Bergsma, Atze ; Pijnappel, Pim. / Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis. In: Molecular Therapy - Methods and Clinical Development. 2020 ; Vol. 17. pp. 337-348.

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title = "Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis",

author = "{in 't Groen}, Stijn and {Oliveira Soares de Faria}, Douglas and Alessandro Iuliano and {van den Hout}, Hannerieke and Hannie Douben and T Dijkhuizen and D Cassiman and P Witters and {Barba Romero}, M{\'A} and {de Klein}, Annelies and {Somers - Bolman}, Galhana and Jasper Saris and EH Hoefsloot and {van der Ploeg}, Ans and Atze Bergsma and Pim Pijnappel",

year = "2020",

doi = "10.1016/j.omtm.2019.12.016",

language = "English",

volume = "17",

pages = "337--348",

journal = "Molecular Therapy - Methods and Clinical Development",

issn = "2329-0501",

publisher = "Cell Press",

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in 't Groen, S , Oliveira Soares de Faria, D , Iuliano, A , van den Hout, H , Douben, H, Dijkhuizen, T, Cassiman, D, Witters, P, Barba Romero, MÁ, de Klein, A , Somers - Bolman, G , Saris, J, Hoefsloot, EH, van der Ploeg, A , Bergsma, A & Pijnappel, P 2020, 'Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis', Molecular Therapy - Methods and Clinical Development, vol. 17, pp. 337-348. https://doi.org/10.1016/j.omtm.2019.12.016

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis. / in 't Groen, Stijn ; Oliveira Soares de Faria, Douglas ; Iuliano, Alessandro ; van den Hout, Hannerieke ; Douben, Hannie; Dijkhuizen, T; Cassiman, D; Witters, P; Barba Romero, MÁ; de Klein, Annelies ; Somers - Bolman, Galhana ; Saris, Jasper; Hoefsloot, EH; van der Ploeg, Ans ; Bergsma, Atze ; Pijnappel, Pim.

In: Molecular Therapy - Methods and Clinical Development, Vol. 17, 2020, p. 337-348.

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

TY - JOUR

T1 - Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

AU - in 't Groen, Stijn

AU - Oliveira Soares de Faria, Douglas

AU - Iuliano, Alessandro

AU - van den Hout, Hannerieke

AU - Douben, Hannie

AU - Dijkhuizen, T

AU - Cassiman, D

AU - Witters, P

AU - Barba Romero, MÁ

AU - de Klein, Annelies

AU - Somers - Bolman, Galhana

AU - Saris, Jasper

AU - Hoefsloot, EH

AU - van der Ploeg, Ans

AU - Bergsma, Atze

AU - Pijnappel, Pim

PY - 2020

Y1 - 2020

U2 - 10.1016/j.omtm.2019.12.016

DO - 10.1016/j.omtm.2019.12.016

M3 - Article

VL - 17

SP - 337

EP - 348

JO - Molecular Therapy - Methods and Clinical Development

JF - Molecular Therapy - Methods and Clinical Development

SN - 2329-0501

ER -