Roberto Della Casa

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

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

Daniela Melis, Alessandro Rossi, Rosario Pivonello et al. · Orphanet Journal of Rare Diseases · 2015 · 48 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation

Simona Fecarotta, Giancarlo Parenti, Pietro Vajro et al. · Journal of Inherited Metabolic Disease · 2006 · 46 citations

Medicine, Nephrology, Pathology +11

Multisystem Involvement in Congenital Insensitivity to Pain with Anhidrosis (CIPA), a Nerve Growth Factor Receptor(Trk A)-Related Disorder

Evelina Toscano, Roberto Della Casa, Sek Mardy et al. · Neuropediatrics · 2000 · 45 citations

Medicine, Molecular Genetics, Neurology +17

Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

Daniela Melis, Rosario Pivonello, Giancarlo Parenti et al. · The Journal of Pediatrics · 2007 · 45 citations · Full text

Life Sciences, Endocrinology, Internal Medicine +13