Myotonic Dystrophy
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Clinicopath Conf, Related Aspiration Pneumonia with Lung & Brain Abscesses, Case 19-2005
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996