A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radio...

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Autors principals: Heo, Ju Sun, Choi, Ka Young, Sohn, Se Hyoung, Kim, Curie, Kim, Yoon Joo, Shin, Seung Han, Lee, Jae Myung, Lee, Juyoung, Sohn, Jin A, Lim, Byung Chan, Lee, Jin A, Choi, Chang Won, Kim, Ee-Kyung, Kim, Han-Suk, Kim, Beyong Il, Choi, Jung-Hwan
Format: Artigo
Idioma:Inglês
Publicat: The Korean Pediatric Society 2012
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510274/
https://ncbi.nlm.nih.gov/pubmed/23227064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2012.55.11.438
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