| Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature D Melis, R Fulceri, G Parenti, P Marcolongo, R Gatti, R Parini, E Riva, ... European journal of pediatrics 164, 501-508, 2005 | 105 | 2005 |
| A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy G Parenti, S Fecarotta, G La Marca, B Rossi, S Ascione, MA Donati, ... Molecular Therapy 22 (11), 2004-2012, 2014 | 91 | 2014 |
| Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells M Rossi, G Parenti, R Della Casa, A Romano, G Mansi, T Agovino, ... Journal of child neurology 22 (5), 565-573, 2007 | 78 | 2007 |
| Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy R Parini, P De Lorenzo, A Dardis, A Burlina, A Cassio, P Cavarzere, ... Orphanet journal of rare diseases 13, 1-12, 2018 | 77 | 2018 |
| Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C S Fecarotta, A Romano, R Della Casa, E Del Giudice, D Bruschini, ... Orphanet Journal of Rare Diseases 10, 1-11, 2015 | 75 | 2015 |
| Brain damage in glycogen storage disease type I D Melis, G Parenti, R Della Casa, M Sibilio, A Romano, F Di Salle, ... The Journal of pediatrics 144 (5), 637-642, 2004 | 65 | 2004 |
| Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I D Melis, R Pivonello, G Parenti, R Della Casa, M Salerno, G Lombardi, ... The Journal of pediatrics 150 (3), 300-305. e1, 2007 | 60 | 2007 |
| The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat S Fecarotta, M Amitrano, A Romano, R Della Casa, D Bruschini, L Astarita, ... American Journal of Medical Genetics Part A 155 (3), 540-547, 2011 | 58 | 2011 |
| Management of otolaryngological manifestations in mucopolysaccharidoses: our experience M Mesolella, M Cimmino, E Cantone, A Marino, M Cozzolino, ... Acta Otorhinolaryngologica Italica 33 (4), 267, 2013 | 56 | 2013 |
| HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation S Fecarotta, G Parenti, P Vajro, A Zuppaldi, RD Casa, MT Carbone, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2006 | 56 | 2006 |
| Crohn's‐like ileo‐colitis in patients affected by glycogen storage disease Ib: two years’ follow‐up of patients with a wide spectrum of gastrointestinal signs D Melis, G Parenti, RD Casa, M Sibilio, RB Canani, G Terrin, S Cucchiara, ... Acta Paediatrica 92 (12), 1415-1421, 2003 | 54 | 2003 |
| Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A)‐related disorder E Toscano, R Della Casa, S Mardy, L Gaetaniello, F Sadile, Y Indo, ... Journal of the Peripheral Nervous System 5 (4), 243-243, 2000 | 53 | 2000 |
| Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience I Scala, D Concolino, RD Casa, A Nastasi, C Ungaro, S Paladino, ... Orphanet journal of rare diseases 10, 1-12, 2015 | 52 | 2015 |
| Efficacy of ACE‐inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study D Melis, G Parenti, R Gatti, RD Casa, R Parini, E Riva, AB Burlina, CD Vici, ... Clinical endocrinology 63 (1), 19-25, 2005 | 43 | 2005 |
| microRNAs as biomarkers in Pompe disease A Tarallo, A Carissimo, F Gatto, E Nusco, A Toscano, O Musumeci, ... Genetics in Medicine 21 (3), 591-600, 2019 | 40 | 2019 |
| 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 … IAM Ditters, HH Huidekoper, ME Kruijshaar, D Rizopoulos, A Hahn, ... The Lancet Child & Adolescent Health 6 (1), 28-37, 2022 | 37 | 2022 |
| Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b D Melis, R Pivonello, M Cozzolino, R Della Casa, F Balivo, A Del Puente, ... Hormone Research in Paediatrics 81 (1), 55-62, 2014 | 32 | 2014 |
| Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b D Melis, R Della Casa, R Parini, M Rigoldi, C Cacciapuoti, P Marcolongo, ... European journal of pediatrics 168, 1069-1074, 2009 | 32 | 2009 |
| Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome M Rossi, G Federico, G Corso, G Parenti, A Battagliese, AR Frascogna, ... Journal of inherited metabolic disease 28, 69-80, 2005 | 31 | 2005 |
| Muscle MRI of classic infantile pompe patients: fatty substitution and edema‐like changes A Pichiecchio, M Rossi, C Cinnante, GS Colafati, R De Icco, R Parini, ... Muscle & Nerve 55 (6), 841-848, 2017 | 26 | 2017 |