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Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid

โœ Scribed by M. O. Rolland; P. Divry; G. Mandon; P. Guibaud; M. Mathieu; G. Sournies; J. M. Thoulon


Publisher
Springer
Year
1990
Tongue
English
Weight
237 KB
Volume
13
Category
Article
ISSN
0141-8955

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โœ H. W. F. van Eyndhoven; H. G. ter Brugge; A. J. van Essen; W. J. Kleijer ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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