Ontology highlight
ABSTRACT:
SUBMITTER: Plockinger U
PROVIDER: S-EPMC5059215 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Plöckinger Ursula U Tiling Nikolaus N Bosanska Lenka L Temmesfeld-Wollbrueck Bettina B Irlbacher Kerstin K Mezger Viktor V Gossing Gabriele G
JIMD reports 20151117
Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurolog ...[more]