Browsing by Author "Ianzano, L., Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ont., Canada, Laboratory of Medical Genetics, Mauro Baschirotto Institute for Rare Diseases, Vicenza, Italy, Department of Clinical Neurophysiology, National Neurologic Institute C. Besta, Milan, Italy"

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Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

Lohi H.; Turnbull J.; Zhao X.C.; Pullenayegum S.; Ianzano L.; Yahyaoui M.; Mikati M.A.; Franceschetti S.; Zara F.; Minassian B.A. (PHILADELPHIA530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA, 2007)

Lafora disease (LD) can be diagnosed by skin biopsy, but this approach has both false negatives and false positives. Biopsies of other organs can also be diagnostic but are more invasive. Genetic diagnosis is also possible ...

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