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

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

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.

Affiliation

Heo JS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

Korean J Pediatr ; 55(11): 438-44, 2012 Nov.

Article in En | MEDLINE | ID: mdl-23227064

Key words

Enzyme assays; Human GNPTAB protein; Mucolipidosis; Newborn infant; Secondary hyperparathyroidism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Korean J Pediatr Year: 2012 Document type: Article Country of publication:

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Korean J Pediatr Year: 2012 Document type: Article Country of publication: