1. Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype. (18th November 2013) Authors: Tummolo, Albina; Gabrielli, Orazio; Gaeta, Alberto; Masciopinto, Maristella; Zampini, Lucia; Pavone, Luigi Michele; Di Natale, Paola; Papadia, Francesco Other Names: Bhattacharyya Indraneel Academic Editor. Journal: Case reports in medicine Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis. Issue 4 (7th May 2022) Authors: Tummolo, Albina; Leone, Piero; Tolomeo, Maria; Solito, Rita; Mattiuzzo, Matteo; Lepri, Francesca Romana; Lorè, Tania; Cardinali, Roberta; De Giovanni, Donatella; Simonetti, Simonetta; Barile, Maria Journal: JIMD reports Issue: Volume 63:Issue 4(2022) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel autophagic vacuolar myopathies: Phenotype and genotype features. (1st February 2021) Authors: Napolitano, Filomena; Terracciano, Chiara; Bruno, Giorgia; De Blasiis, Paolo; Lombardi, Luca; Gialluisi, Alessandro; Gianfrancesco, Fernando; De Giovanni, Donatella; Tummolo, Albina; Di Iorio, Giuseppe; Limongelli, Giuseppe; Esposito, Teresa; Melone, Mariarosa Anna Beatrice; Sampaolo, Simone Journal: Neuropathology & applied neurobiology Issue: Volume 47:Number 5(2021) Page Start: 664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers. (4th March 2021) Authors: Burlina, Alberto; Leuzzi, Vincenzo; Spada, Marco; Carbone, Maria Teresa; Paci, Sabrina; Tummolo, Albina Journal: Current medical research and opinion Issue: Volume 37:Number 3(2021) Page Start: 411 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. (July 2017) Authors: Buonuomo, Paola Sabrina; Iughetti, Lorenzo; Pisciotta, Livia; Rabacchi, Claudio; Papadia, Francesco; Bruzzi, Patrizia; Tummolo, Albina; Bartuli, Andrea; Cortese, Claudio; Bertolini, Stefano; Calandra, Sebastiano Journal: Atherosclerosis Issue: Volume 262(2017) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗