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Juvenile galactosialidosis in a white male: A new variant

✍ Scribed by Chitayat, David ;Applegarth, Derek A. ;Lewis, Joyce ;Dimmick, James E. ;McCormick, Andrew Q. ;Hall, Judith G. ;Opitz, John M. ;Reynolds, James F.


Book ID
102700937
Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
981 KB
Volume
31
Category
Article
ISSN
0148-7299

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πŸ“œ SIMILAR VOLUMES


Early-infantile galactosialidosis: Clini
✍ Zammarchi, Enrico; Donati, Maria Alice; Morrone, Amelia; Donzelli, Gian Paolo; Z πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 631 KB

Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonia, massive edema, a flattened coarse facies, telangiect