Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis

• Główni autorzy: Sasha Libbrecht (Autor), Francois Eyskens (Autor), Sabine Declercq (Autor), Cecile Colpaert (Autor)
• Format: Książka
• Wydane: Hindawi Limited, 2020-01-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Introduction. Lysosomal storage disorders (LSDs) are rare diseases with more than 50 different entities described today. The spectrum of phenotypes varies from severe to lethal and early-onset disease to mild and late onset. Recognition of the clinical signs and diagnostic workup is challenging and...