Douglas Oliveira Soares de Faria - Dissemin

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All papers authored by Douglas Oliveira Soares de Faria

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2022 Ni-Chung Lee

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, Kai-Ling Chang, Stijn L. M. in 't Groen, Douglas O. S. de Faria

ORCID

, Hsiang-Ju Huang, W. W. M. P.-I.-M. Pijnappel, Wuh-Liang Hwu, Yin-Hsiu Chien

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Outcome of later-onset Pompe disease identified through newborn screening

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2021 Monica Y. Niño, Stijn L. M. in't Groen, Douglas O. S. Faria

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, Marianne Hoogeveen‐Westerveld, Hannerieke J. M. P. Hout, Ans T. Ploeg, Atze J. Bergsma

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, W. W. M. Pim Pijnappel

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Broad variation in phenotypes for common GAA genotypes in Pompe disease

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2020 Douglas O. S. Faria

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, Stijn L. M. in ‘t Groen, Stijn L. M. Groen, Marianne Hoogeveen‐Westerveld, Monica Y. Nino, Ans T. Ploeg, Atze J. Bergsma, W. W. M. Pim Pijnappel

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Update of the Pompe variant database for the prediction of clinical phenotypes: novel disease‐associated variants, common sequence variants, and results from newborn screening

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Monica Y. Niño, Mark Wijgerde, Douglas Oliveira Soares de Faria

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, Marianne Hoogeveen-Westerveld, Atze J. Bergsma, Mike Broeders, Nadine A. M. E. van der Beek

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, Hannerieke J. M. van den Hout, Ans T. van der Ploeg, Frans W. Verheijen, W. W. M. Pim Pijnappel

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

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Stijn L. M. in ’t Groen, Douglas O. S. de Faria

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, Alessandro Iuliano, Johanna M. P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma and 1 other authors

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

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2019 Priscila Nicolicht, Douglas O. S. Faria

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, Leonardo Martins-Silva, Luana S. M. Maia, Adriana S. Moreno, L. K. Arruda, Antonio A. Motta, Anete S. Grumach, João B. Pesquero

ORCID

Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families

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2015 Lauro Thiago Turaça, Douglas Oliveira Soares de Faria

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, Sandra Obikawa Kyosen, Valber Dias Teixeira, Fabiana Louise Motta

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, Juliana Gilbert Pessoa, Marina Rodrigues e. Silva, Sandro Soares de Almeida, Vânia D'Almeida, Maria Verônica Munoz Rojas, Ana Maria Martins, João Bosco Pesquero

Novel GAA mutations in patients with Pompe disease

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