| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5905009 | European Journal of Medical Genetics | 2012 | 6 Pages |
Abstract
⺠We report two males sibs presenting with a storage disorder resembling Morquio disease. ⺠No lysosomal enzyme defect could be identified. ⺠Blood smear showed in both children normal lymphocytes but abnormal coarse inclusions in eosinophils, mild Alder anomaly in polymorphonuclears. Granulations were discretely metachromatic, in favor of a storage disease. ⺠Transmission could be autosomal recessive or X-linked.
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Authors
Laurence Perrin, Odile Fenneteau, Brice Ilharreborde, Yline Capri, Marion Gérard, Emmanuel Bui Quoc, Sandrine Passemard, Jamal Ghoumid, Catherine Caillaud, Roseline Froissart, Anne-Claude Tabet, Sophie Lebon, Vincent El Ghouzzi, Keyvan Mazda,