Pietro Strisciuglio

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra et al. · Nature Genetics · 2006 · 416 citations

Mitochondrial Biogenesis, Mitochondrial Function, Natural Sciences +7

Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.

Giovanni Di Minno, Maurizio Margaglione, Federica Cirillo et al. · Journal of Clinical Investigation · 1993 · 161 citations · Full text

High Thromboxane Biosynthesis, Pathology, Platelet Pathobiology +23

Prevalence and Natural History of Gastroesophageal Reflux: Pediatric Prospective Survey

Angelo Campanozzi, Gabriella Boccia, Licia Pensabene et al. · PEDIATRICS · 2009 · 160 citations

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

Gul N. Shah, Giuseppe Bonapace, Peiyi Hu et al. · Human Mutation · 2004 · 125 citations · Full text

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

Giulia Polo, Alessandro P. Burlina, Thilini B. Kolamunnage et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2017 · 116 citations · Full text