A genetic modifier of symptom onset in Pompe diseaseResearch in context

A genetic modifier of symptom onset in Pompe diseaseResearch in context

Background: Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype. This splicing variant occurs in 90% of Caucasian late onset patients,...

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Main Authors: Atze J. Bergsma, Stijn L.M. in 't Groen, Jan J.A. van den Dorpel, Hannerieke J.M.P. van den Hout, Nadine A.M.E. van der Beek, Benedikt Schoser, Antonio Toscano, Olimpia Musumeci, Bruno Bembi, Andrea Dardis, Amelia Morrone, Albina Tummolo, Elisabetta Pasquini, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Format: Article
Language:English
Published: Elsevier 2019-05-01
Series:EBioMedicine
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396419301938

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http://www.sciencedirect.com/science/article/pii/S2352396419301938

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