Showing results (1-10 of 373) with videos related to
Sort By:
Pageof 38
Neuropediatrics|December 22, 1999
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)R Barone, F Nigro, F Triulzi, et al.Clinical Genetics|November 13, 2010
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutationA Fiumara, R Barone, A Arena, et al.Thrombosis and Haemostasis|October 1, 1996
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type IA Fiumara, R Barone, P Buttitta, et al.British Journal of Haematology|May 3, 2000
Extraordinary bone involvement in a gaucher disease type I patientR Barone, V Pavone, F Nigro, et al.Brain & Development|July 7, 1999
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)R Barone, L Pavone, A Fiumara, et al.Journal of Child Neurology|August 24, 1999
Rett syndrome: photographic evidence of rapid regressionA Fiumara, R Barone, G D'Asero, et al.American Journal of Medical Genetics|May 3, 1996
Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)R Barone, K Brühl, P Stoeter, et al.Pediatric Neurology|October 6, 2001
Extraneurologic symptoms as presenting signs of Sanfilippo diseaseR Barone, A Fiumara, G R Villani, et al.American Journal of Medical Genetics|August 1, 1991
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblastsL Pavone, G Incorpora, A Fiumara, et al.Clinical Genetics|April 1, 1995
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease)M Beck, R Barone, R Hoffmann, et al.Pageof 38