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

• Main Authors: Ju Sun Heo (Author), Ka Young Choi (Author), Se Hyoung Sohn (Author), Curie Kim (Author), Yoon Joo Kim (Author), Seung Han Shin (Author), Jae Myung Lee (Author), Juyoung Lee (Author), Jin A Sohn (Author), Byung Chan Lim (Author), Jin A Lee (Author), Chang Won Choi (Author), Ee-Kyung Kim (Author), Han-Suk Kim (Author), Beyong Il Kim (Author), Jung-Hwan Choi (Author)
• Format: Book
• Published: Korean Pediatric Society, 2012-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...