Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

Mucolipidosis type II (MLII, MIM 252500) is a lysosomal storage disorders caused by defects in GNPTAB gene which encodes alpha and beta subunits of N-acetylglucosamine (GlcNAc)-1-phosphotransferase. Neonatal presentation includes coarse facial features, restricted postnatal growth, generalized hypot...

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Detalles Bibliográficos
Autores principales: Wongkittichote, Parith, Upchurch, Garland Michael, Dehner, Louis P., Wood, Timothy, Granadillo, Jorge L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025142/
https://www.ncbi.nlm.nih.gov/pubmed/33854947
http://dx.doi.org/10.1016/j.ymgmr.2021.100747

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025142/
https://www.ncbi.nlm.nih.gov/pubmed/33854947
http://dx.doi.org/10.1016/j.ymgmr.2021.100747

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