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Cardiac manifestations in Fabry disease

✍ Scribed by A. Linhart; J.-C. Lubanda; T. Palecek; J. Bultas; D. Karetová; J. Ledvinová; M. Elleder; M. Aschermann

Book ID
110313098
Publisher
Springer
Year
2001
Tongue
English
Weight
977 KB
Volume
24
Category
Article
ISSN
0141-8955

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📜 SIMILAR VOLUMES

A novel A97P amino acid substitution in
A novel A97P amino acid substitution in α-galactosidase A leads to a classical Fabry disease with cardiac manifestations
✍ K. Kimura; K.C. Sato-Matsumura; H. Nakamura; Y. Onodera; K. Morita; N. Enami; T. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 190 KB

## Background: Fabry disease results from a genetic deficiency of alpha-galactosidase a (gla) activity. phenotype-genotype correlations in this condition have not as yet been fully elucidated. ## Objective: To report a case of a male patient with classical fabry disease and his mother, a heterozy