1. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. (January 2022) Authors: Ditters, Imke Anne Maartje; Huidekoper, Hidde Harmen; Kruijshaar, Michelle Elisabeth; Rizopoulos, Dimitris; Hahn, Andreas; Mongini, Tiziana Enrica; Labarthe, François; Tardieu, Marine; Chabrol, Brigitte; Brassier, Anais; Parini, Rossella; Parenti, Giancarlo; van der Beek, Nadine Anna Maria Elisab... Journal: Lancet Issue: Volume 6:Number 1(2022) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome. (1st August 2017) Authors: Ardissino, Gianluigi; Perrone, Michela; Tel, Francesca; Testa, Sara; Morrone, Amelia; Possenti, Ilaria; Tagliaferri, Francesco; Dilena, Robertino; Menni, Francesca Other Names: Das Anibh Martin Academic Editor. Journal: Case reports in pediatrics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes. Issue 6 (9th February 2017) Authors: Pichiecchio, Anna; Rossi, Marta; Cinnante, Claudia; Colafati, Giovanna Stefania; De Icco, Roberto; Parini, Rossella; Menni, Francesca; Furlan, Francesca; Burlina, Alberto; Sacchini, Michele; Donati, Maria Alice; Fecarotta, Simona; Casa, Roberto Della; Deodato, Federica; Taurisano, Roberta; Di Roc... Journal: Muscle & nerve Issue: Volume 55:Issue 6(2017) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines. Issue 3 (3rd March 2016) Authors: Esposito, Susanna; Cerutti, Marta; Milani, Donatella; Menni, Francesca; Principi, Nicola Journal: Human vaccines & immunotherapeutics Issue: Volume 12:Issue 3(2016) Page Start: 801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccines. Issue 48 (27th November 2015) Authors: Cerutti, Marta; De Lonlay, Pascale; Menni, Francesca; Parini, Rossella; Principi, Nicola; Esposito, Susanna Journal: Vaccine Issue: Volume 33:Issue 48(2015) Page Start: 6520 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome. Issue 7 (21st May 2013) Authors: Van Lierde, Andrea; Menni, Francesca; Bedeschi, Maria Francesca; Natacci, Federica; Guez, Sophie; Vizziello, Paola; Costantino, Maria Antonella; Lalatta, Faustina; Esposito, Susanna Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1666 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A multidisciplinary approach in neurofibromatosis 1. Issue 1 (January 2015) Authors: Milani, Donatella; Pezzani, Lidia; Tadini, Gianluca; Menni, Francesca; Esposito, Susanna Journal: Lancet neurology Issue: Volume 14:Issue 1(2015:Jan.) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?. Issue 4 (25th February 2021) Authors: Tucci, Sara; Wagner, Christine; Grünert, Sarah C.; Matysiak, Uta; Weinhold, Natalie; Klein, Jeannette; Porta, Francesco; Spada, Marco; Bordugo, Andrea; Rodella, Giulia; Furlan, Francesca; Sajeva, Anna; Menni, Francesca; Spiekerkoetter, Ute Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 916 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hepatoblastoma in Rubinstein–Taybi Syndrome: A Case Report. Issue 3 (20th October 2015) Authors: Milani, Donatella; Bonarrigo, Francesca Andrea; Menni, Francesca; Spaccini, Luigina; Gervasini, Cristina; Esposito, Susanna Journal: Pediatric blood & cancer Issue: Volume 63:Issue 3(2016) Page Start: 572 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Think About It: FMR1 Gene Mosaicism. (September 2014) Authors: Bonarrigo, Francesca Andrea; Russo, Silvia; Vizziello, Paola; Menni, Francesca; Cogliati, Francesca; Giorgini, Valentina; Monti, Federico; Milani, Donatella Other Names: Maria Bernard L. guest-editor. Journal: Journal of child neurology Issue: Volume 29:Number 9(2014:Sep.) Page Start: NP74 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗