Gaetano Sabetta
Pontifical Urban University(IT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research, Neonatal Health and Biochemistry, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey(2002)245 cited
- → Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators(2001)170 cited
- → Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers(1988)117 cited
- → Fatal infantile liver failure associated with mitochondrial DNA depletion(1992)109 cited
- → A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts(1994)74 cited
- → New clinical phenotype of branched-chain acyl-CoA oxidation defect(1991)71 cited
- → Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency(1991)69 cited
- → Hypoparathyroidism in mitochondrial trifunctional protein deficiency(1996)62 cited
- → Allogeneic bone marrow transplantation for infantile globoid‐cell leukodystrophy (Krabbe's disease)(2002)26 cited
- → Cerebro‐reno‐digital (Meckel‐like) syndrome with Dandy‐Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly(1993)19 cited