de Faria, Douglas Oliveira Soares
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3

Enzymatic diagnosis of Pompe disease:lessons from 28 years ..:

Niño, Monica Y ; Wijgerde, Mark ; de Faria, Douglas Oliveira Soares...
Niño , M Y , Wijgerde , M , de Faria , D O S , Hoogeveen-Westerveld , M , Bergsma , A J , Broeders , M , van der Beek , N A M E , van den Hout , H J M , van der Ploeg , A T , Verheijen , F W & Pijnappel , W W M P 2021 , ' Enzymatic diagnosis of Pompe disease : lessons from 28 years of experience ' , European Journal of Human Genetics , vol. 29 , no. 3 , pp. 434-446 . https://doi.org/10.1038/s41431-020-00752-2.  , 2021
 
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Update of the Pompe variant database for the prediction of ..:

Oliveira Soares de Faria, Douglas ; in 't Groen, Stijn ; Hoogeveen - Westerveld, Marianne...
Oliveira Soares de Faria , D , in 't Groen , S , Hoogeveen - Westerveld , M , Nino Martinez , M , van der Ploeg , A , Bergsma , A & Pijnappel , P 2021 , ' Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening ' , Human Mutation , vol. 42 , no. 2 , pp. 119-134 . https://doi.org/10.1002/humu.24148.  , 2021
 
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Novel GAA Variants and Mosaicism in Pompe Disease Identifie..:

in 't Groen, Stijn ; Oliveira Soares de Faria, Douglas ; Iuliano, Alessandro...
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.  , 2020
 
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