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

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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Bibliographic Details
Main Authors: Parith Wongkittichote, Garland Michael Upchurch, Louis P. Dehner, Timothy Wood, Jorge L. Granadillo
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucolipidosis type II
GNPTAB-related disorders
Trophoblastic lipidosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000410

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http://www.sciencedirect.com/science/article/pii/S2214426921000410

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