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

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...

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Detalles Bibliográficos
Autores principales: Libbrecht, Sasha, Eyskens, Francois, Declercq, Sabine, Colpaert, Cecile
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277025/
https://www.ncbi.nlm.nih.gov/pubmed/32551145
http://dx.doi.org/10.1155/2020/8181056