𝔖 Bobbio Scriptorium
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International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease

✍ Scribed by A. M. Montaño; S. Tomatsu; G. S. Gottesman; M. Smith; T. Orii


Book ID
106374194
Publisher
Springer
Year
2007
Tongue
English
Weight
682 KB
Volume
30
Category
Article
ISSN
0141-8955

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Since the introduction in 1990 of a novel ¯uorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in ®ve cases. The results indicated an affected fetus