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Mucopolysaccharidosis VII (β-glucuronidase deficiency) presenting as nonimmune hydrops fetalis

✍ Scribed by Andre Nelson; LoAnn Peterson; Beth Frampton; William S. Sly

Book ID: 119459832
Publisher: Elsevier Science
Year: 1982
Tongue: English
Weight: 288 KB
Volume: 101
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(82)80707-5

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We describe a patient with recurrent non-immune hydrops fetalis diagnosed as mucopolysaccharidosis type VII. This rare autosomal recessive disorder is caused by a beta-glucuronidase deficiency. Chorionic villus sampling was performed in the 11th week of the subsequent pregnancy and beta-glucuronidas