Open AccessVariable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease
Author(s) -
Jousef Alandy-Dy,
Marie Wencel,
Kathy Hall,
Julie Simon,
Yanjun Chen,
Erik Valenti,
Jade Yang,
Deeksha Bali,
Anita Lakatos,
Namita Goyal,
Tahseen Mozaffar,
Virginia Kimonis
Publication year - 2019
Publication title -
annals of translational medicine
Language(s) - English
Resource type - Journals
eISSN - 2305-5847
pISSN - 2305-5839
DOI - 10.21037/atm.2019.06.48
Subject(s) - glycogen storage disease type ii , medicine , disease , enzyme replacement therapy , age of onset , muscle weakness , scoliosis , compound heterozygosity , pediatrics , weakness , gastroenterology , surgery , phenotype , biology , genetics , gene