Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease

Abstract Background Pompe disease is an autosomal recessively inherited lysosomal storage disorder, caused by enzyme deficiency of acid alpha-glucosidase (GAA). This deficiency leads to the accumulation of glycogen in lysosomes and subsequent muscle dysfunction, thus affecting heart and skeletal mus...

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主要な著者:	Magdalena Bachmann, David Kasper, Sabine Scholl-Bürgi, Julian Margreitter, Alexander Höller, Wolfgang Löscher, Daniela Karall, Thomas Zöggeler
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2025-12-01
シリーズ:	International Breastfeeding Journal
主題:	Lactation Breastfeeding Enzyme replacement therapy Pompe disease Glycogen storage disease type II Alglucosidase alfa
オンライン･アクセス:	https://doi.org/10.1186/s13006-025-00775-9
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