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Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria

✍ Scribed by Guido F. Laube; James V. Leonard; William G. van't Hoff


Publisher
Springer
Year
2003
Tongue
English
Weight
131 KB
Volume
18
Category
Article
ISSN
0931-041X

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We describe the first case of prenatally detected Barth Syndrome, an X-linked disorder involving multiple organ systems leading to dilated cardiomyopathy, skeletal myopathy, growth restriction, and recurrent bacterial infections due to neutropenia. 1997 by John Wiley & Sons, Ltd.