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Sanfilippo disease type B and neonatal supraventricular tachycardia

✍ Scribed by K Monastiri; B Seket; S Hammami; C Chouchane; C Ben Meriem; S Chouchane; F Maatouk; A Miled; I Maire; MN Guediche

Book ID
114813367
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
174 KB
Volume
91
Category
Article
ISSN
0803-5253

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πŸ“œ SIMILAR VOLUMES

Prenatal diagnosis of Sanfilippo disease
Prenatal diagnosis of Sanfilippo disease type B
✍ W. J. Kleijer; J. G. M. Huijmans; W. Blom; D. Gorska; J. Kubalska; M. Walasek; J πŸ“‚ Article πŸ“… 1984 πŸ› Springer 🌐 English βš– 315 KB

The prenatal diagnosis of a fetus affected with Sanfilippo disease type B is described. The deficiency of alpha-N-acetylglucosaminidase in the cultured amniotic fluid cells was shown by a microassay enabling early prenatal diagnosis. In addition an increased level of heparan sulphate was demonstrate