Author: 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
Title: A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth Document date: 2012_11_23
ID: 5b6z7cqx_14
Snippet: The result of a urine mucopolysaccharidosis screening test was negative. The activities of β-D-hexosaminidase and α-N-acetylglucosaminidase were moderately decreased in leukocytes but were 5-to 10-fold higher than that of the control in plasma (Table 1) . Exa mination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts (Fig. 6) . Diagnosis of ML II was confirmed by GNPTAB genetic testing, which .....
Document: The result of a urine mucopolysaccharidosis screening test was negative. The activities of β-D-hexosaminidase and α-N-acetylglucosaminidase were moderately decreased in leukocytes but were 5-to 10-fold higher than that of the control in plasma (Table 1) . Exa mination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts (Fig. 6) . Diagnosis of ML II was confirmed by GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCA AC(p.Ile1154GlnfsX3) (Fig. 7) .
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