Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective

by Raymond Saich, Renee Brown, Maddy Collicoat, Catherine Jenner, Jenna Primmer, Beverley Clancy, Tarryn Holland, Steven Krinks
Published 2020-01-01

Characteristics of Pompe disease in China: a report from the Pompe registry

by Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu, Yonglan Huang, Zhengqing Qiu, Yanping Wei, Chuanzhu Yan
Published 2019-04-01

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

by S. S. Nikitin
Published 2020-01-01

At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

by Zoltan Lukacs, Petra Oliva, Paulina Nieves Cobos, Jacob Scott, Thomas P. Mechtler, David C. Kasper
Published 2020-12-01

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

by Barbara K. Burton, Joel Charrow, George E. Hoganson, Julie Fleischer, Dorothy K. Grange, Stephen R. Braddock, Lauren Hitchins, Rachel Hickey, Katherine M. Christensen, Daniel Groeppner, Heather Shryock, Pamela Smith, Rong Shao, Khaja Basheeruddin
Published 2020-01-01

Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology

by Khadijeh Haji Naghi Tehrani, Elmira Sakhaeyan, Elnaz Sakhaeyan
Published 2017-07-01

The Respiratory Phenotype of Pompe Disease Mouse Models

by Anna F. Fusco, Angela L. McCall, Justin S. Dhindsa, Lucy Zheng, Aidan Bailey, Amanda F. Kahn, Mai K. ElMallah
Published 2020-03-01

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease

by C. Papadopoulos, G.K. Papadimas, H. Michelakakis, E. Kararizou, P. Manta
Published 2014-01-01

Pompe disease, a late-onset – misleading form of diagnosis in a patient with persistent hepatic cytolysis syndrome

by Smaranda Diaconescu, Cristina Rusu, Laura Bozomitu, Alina Costina Luca, Ecaterina Vlad, Oana-Larisa Ciobanu-Matei, Ramona Babici, Silvia Strat, Lorenza Donea
Published 2020-06-01

A case of Pompe disease in infant

by E. F. Sudorgina, S. B. Choloyan, M. V. Sheenkova, L. P. Kolesnikova
Published 2015-02-01

The First Year Experience of Newborn Screening for Pompe Disease in California

by Hao Tang, Lisa Feuchtbaum, Stanley Sciortino, Jamie Matteson, Deepika Mathur, Tracey Bishop, Richard S. Olney
Published 2020-02-01

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE

by Alina-Costina Luca, Elena Braha
Published 2017-03-01

Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report

by Süleyman Bayraktar, Bilge Tanyeri Bayraktar, Murat Elevli
Published 2015-09-01

Newborn Screening for Pompe Disease: Pennsylvania Experience

by Can Ficicioglu, Rebecca C. Ahrens-Nicklas, Joshua Barch, Sanmati R. Cuddapah, Brenda S. DiBoscio, James C. DiPerna, Patricia L. Gordon, Nadene Henderson, Caitlin Menello, Nicole Luongo, Damara Ortiz, Rui Xiao
Published 2020-11-01

Pompe disease: A case report

by Abdullah Çim, Salih Coşkun, Ahmet Yılmaz, Hüseyin Onay
Published 2015-12-01

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

by Matteo Paoletti, Anna Pichiecchio, Anna Pichiecchio, Giovanna Stefania Colafati, Giorgio Conte, Federica Deodato, Serena Gasperini, Francesca Menni, Francesca Furlan, Laura Rubert, Fabio Maria Triulzi, Fabio Maria Triulzi, Claudia Cinnante
Published 2020-11-01

Pompe disease and ophthalmopathy: literature review

by Tuy Nga Brignol, J. Andoni Urtizberea
Published 2015-05-01

Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation

by Kshea Hale, Yvonne Kellar-Guenther, Sarah McKasson, Sikha Singh, Jelili Ojodu
Published 2020-06-01

Lessons Learned from Pompe Disease Newborn Screening and Follow-up

by Tracy L. Klug, Lori B. Swartz, Jon Washburn, Candice Brannen, Jami L. Kiesling
Published 2020-02-01

Establishing Pompe Disease Newborn Screening: The Role of Industry

by Joan M Keutzer
Published 2020-07-01