I-Cell Disease (Mucolipidosis II) Presenting as Neonatal Fractures: A Case for Continued Monitoring of Serum Parathyroid Hormone Levels

A severe form of I-cell disease (mucolipidosis II) can present in the newborn period as multiple fractures. The bone disease in these patients is believed to be due to hyperparathyroidism. We report a case where bone disease was present at birth but the parathyroid hormone levels were initially norm...

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Detalles Bibliográficos
Autores principales: Khan, Aneal, Ho, Josephine, Pender, Amy, Wei, Xingchang, Potter, Murray
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2008
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004859/
https://www.ncbi.nlm.nih.gov/pubmed/24790368
http://dx.doi.org/10.1297/cpe.17.81

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