Michelina Sibilio

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 157 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Brain damage in glycogen storage disease type I

Daniela Melis, Giancarlo Parenti, Roberto Della Casa et al. · The Journal of Pediatrics · 2004 · 49 citations

Life Sciences, Neurology, Neuroscience +14

Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs

Daniela Melis, Giancarlo Parenti, Roberto Della Casa et al. · Acta Paediatrica · 2003 · 43 citations

Medicine, Clinical Sciences, Pathology +17

Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort

Silvia Funghini, Janita Thusberg, Marco Spada et al. · Gene · 2011 · 36 citations

Life Sciences, Genetics, Molecular Genetics +11

Crohn's‐like ileo‐colitis in patients affected by glycogen storage disease Ib: two years’follow‐up of patients with a wide spectrum of gastrointestinal signs

Daniela Melis, Giancarlo Parenti, Roberto Della Casa et al. · Acta Paediatrica · 2003 · 35 citations

Medicine, Clinical Sciences, Pathology +17