R
Rossella Parini
Researcher at University of Milano-Bicocca
Publications - 201
Citations - 7423
Rossella Parini is an academic researcher from University of Milano-Bicocca. The author has contributed to research in topics: Enzyme replacement therapy & Fabry disease. The author has an hindex of 43, co-authored 197 publications receiving 6452 citations. Previous affiliations of Rossella Parini include University of Padua & University of Milan.
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Journal ArticleDOI
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
Rossella Parini,Francesca Menni,Barbara Garavaglia,Vlasta Fesslova,D. Melotti,M. L. Massone,Eleonora Lamantea,Marco Rimoldi,P. Vizziello,Rosanna Gatti +9 more
TL;DR: Late-onset VLCAD deficiency may present as acute cardiomyopathy, as well as gross myoglobinuria and normoglycaemia, in a 5-year-old boy with late-ONSet very long-chain acyl-CoA-dehydrogenase deficiency.
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Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Sabrina Lucchiari,Maria Alice Donati,Daniela Melis,Mirella Filocamo,Rossella Parini,Nereo Bresolin,Giacomo P. Comi +6 more
TL;DR: The molecular characterisation of five unrelated subjects, four Italian and one Tunisian, is reported and the following new mutations are described and confirmed, confirming the genetic heterogeneity of this disease.
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Combined liver-kidney transplantation in glycogen storage disease Ia: A case beyond the guidelines
Mirco Belingheri,Luciana Ghio,Ambra Sala,Francesca Menni,Laura Trespidi,Mariano Ferraresso,Luisa Berardinelli,Giorgio Rossi,Alberto Edefonti,Rossella Parini +9 more
TL;DR: It is explained how combined liver‐kidney transplantation (LKT) made it possible to correct the metabolic defects responsible for the impaired glucose homeostasis, liberalize the diet, and give birth to a healthy child after an uneventful pregnancy.
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Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.
Rossella Parini,Federica Invernizzi,Francesca Menni,Barbara Garavaglia,D. Melotti,Marco Rimoldi,S. Salera,C. Tosetto,Franco Taroni +8 more
TL;DR: The utilization of medium-chain triglycerides is only partial in carnitine–acylcarnitine translocase deficiency and cannot reasonably be considered an optimal source of energy for these patients and careful adjustment of dietetic treatment may help to improve prognosis.
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Determination of argininosuccinate lyase and arginase activities with an amino acid analyzer.
TL;DR: The results obtained from 2 patients suffering from argininosuccinic aciduria were reported, and in these latter cases while ASase was not detectable in blood, arginase activity was at the lowest end of the confidence limits determined in healthy volunteers.