Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene

Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Lysosomal storage diseases have been reported in up to 5%–16% of nonimmune hydrops fet...

Descripción completa

Detalles Bibliográficos
Autores principales: Hasnain, Afia, Burnett, Sherri, Agatep, Ronald, Spriggs, Elizabeth, Chodirker, Bernard, Mhanni, Aizeddin (Aziz) A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559617/
https://www.ncbi.nlm.nih.gov/pubmed/34667062
http://dx.doi.org/10.1101/mcs.a006106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559617/
https://www.ncbi.nlm.nih.gov/pubmed/34667062
http://dx.doi.org/10.1101/mcs.a006106

Ejemplares similares