Parathyromatosis as cause of recurrent secondary hyperparathyroidism: A cytologic diagnosis

β-Glucuronidase deficiency as cause of r

β-Glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

✍ H. W. F. van Eyndhoven; H. G. ter Brugge; A. J. van Essen; W. J. Kleijer 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB

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