| Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome SB Pierce, T Walsh, KM Chisholm, MK Lee, AM Thornton, A Fiumara, ... The American Journal of Human Genetics 87 (2), 282-288, 2010 | 309 | 2010 |
| Autism and phenylketonuria S Baieli, L Pavone, C Meli, A Fiumara, M Coleman Journal of autism and developmental disorders 33, 201-204, 2003 | 189 | 2003 |
| DPM2‐CDG: A muscular dystrophydystroglycanopathy syndrome with severe epilepsy R Barone, C Aiello, V Race, E Morava, F Foulquier, M Riemersma, ... Annals of neurology 72 (4), 550-558, 2012 | 171 | 2012 |
| Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease B Tappino, R Biancheri, M Mort, S Regis, F Corsolini, A Rossi, ... Human mutation 31 (12), E1894-E1914, 2010 | 138 | 2010 |
| Autism and celiac disease: failure to validate the hypothesis that a link might exist L Pavone, A Fiumara, G Bottaro, D Mazzone, M Coleman Biological Psychiatry 42 (1), 72-75, 1997 | 135 | 1997 |
| Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG M Aebi, A Helenius, B Schenk, R Barone, A Fiumara, EG Berger, ... Glycoconjugate journal 16, 669-671, 1999 | 133 | 1999 |
| International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 131 | 2019 |
| Long‐term observational, non‐randomized study of enzyme replacement therapy in late‐onset glycogenosis type II B Bembi, FE Pisa, M Confalonieri, G Ciana, A Fiumara, R Parini, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for
, 2010 | 124 | 2010 |
| Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia L Sturiale, R Barone, A Fiumara, M Perez, M Zaffanello, G Sorge, ... Glycobiology 15 (12), 1268-1276, 2005 | 124 | 2005 |
| Natural history of vanishing white matter EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ... Annals of neurology 84 (2), 274-288, 2018 | 117 | 2018 |
| Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy R Manara, E Priante, M Grimaldi, L Santoro, L Astarita, R Barone, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for
, 2011 | 106 | 2011 |
| Epilepsy in patients with Angelman syndrome A Fiumara, A Pittalà, M Cocuzza, G Sorge Italian journal of pediatrics 36, 1-6, 2010 | 106 | 2010 |
| Autism: evidence of association with adenosine deaminase genetic polymorphism N Bottini, D De Luca, P Saccucci, A Fiumara, M Elia, MC Porfirio, ... Neurogenetics 3, 111-113, 2001 | 101 | 2001 |
| Epilepsy is not a prominent feature of primary autism P Pavone, G Incorpora, A Fiumara, E Parano, RR Trifiletti, M Ruggieri Neuropediatrics 35 (04), 207-210, 2004 | 100 | 2004 |
| Phenotype and genotype of 87 patients with MowatWilson syndrome and recommendations for care I Ivanovski, O Djuric, SG Caraffi, D Santodirocco, M Pollazzon, S Rosato, ... Genetics in Medicine 20 (9), 965-975, 2018 | 92 | 2018 |
| Clinical and neuroradiological findings in classic infantile and late‐onset globoid‐cell leukodystrophy (Krabbe disease) R Barone, K Brühl, P Stoeter, A Fiumara, L Pavone, M Beck American journal of medical genetics 63 (1), 209-217, 1996 | 84 | 1996 |
| Imaging findings of mucopolysaccharidoses: a pictorial review S Palmucci, G Attinà, ML Lanza, G Belfiore, G Cappello, PV Foti, P Milone, ... Insights into imaging 4, 443-459, 2013 | 82 | 2013 |
| Congenital disorders of glycosylation with emphasis on cerebellar involvement R Barone, A Fiumara, J Jaeken Seminars in neurology 34 (03), 357-366, 2014 | 79 | 2014 |
| 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 | 78 | 2018 |
| Mucopolysaccharidoses: early diagnostic signs in infants and children C Galimberti, A Madeo, M Di Rocco, A Fiumara Italian journal of pediatrics 44, 7-16, 2018 | 77 | 2018 |
