Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy

Pasqualina Colella

Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study

Marta Moschetti et al.

Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease

Lina Tan, Jana Zschüntzsch, Stefanie Meyer, Alica Stobbe, Hannah Bruex, Adrian P. Regensburger, Merle Claßen, Frauke Alves, Jörg Jüngert, Ulrich Rother, Yi Li, Vera Danko, Werner Lang, Matthias Türk, Sandy Schmidt, Matthias Vorgerd, Lara Schlaffke, Joachim Woelfle, Andreas Hahn, Alexander Mensch, Martin Winterholler, Regina Trollmann, Rafael Heiß, Alexandra L. Wagner, Ferdinand Knieling

Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers

Moritz Ilan Truninger, Helene Werner, Markus Andreas Landolt, Andreas Hahn, Julia B. Hennermann, Florian B. Lagler, Dorothea Möslinger, Charlotte Pfrimmer, Marianne Rohrbach & Martina Huemer

Precision medicine in action for Pompe disease

Antonietta Tarallo, Giancarlo Parenti, Nicola Brunetti-Pierri

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records

Jaloliddin Rustamov, Zahiriddin Rustamov, Mohd Saberi Mohamad, Nazar Zaki, Amal Al Tenaiji, Mariam Al Harbi & Fatma Al Jasmi

The lived experience of mothers caring for school-age children with Pompe disease: A qualitative study

Ju-Chun Cheng RN, MSN a , Chia-Feng Yang MD, PhD b c , Cheng-Chen Chou RN, PhD d , Ying-Mei Shu RN, PhD e , Pei-Ching Liu RN, PhD f , Kao-Wen Lo RN, MSN e , Chi-Wen Chen

Pombiliti and Opfolda: shaping the future of adult late-onset pompe disease: an editorial

Riaz, Rumaisa; Singh, Ajeet, Shakeel, Laiba; Fatima, Laveeza; Akilimali, Aymar