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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Hindawi
2020
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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 |