Agata Fiumara
Agata Fiumara
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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
Autism and phenylketonuria
S Baieli, L Pavone, C Meli, A Fiumara, M Coleman
Journal of autism and developmental disorders 33 (2), 201-204, 2003
DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy
R Barone, C Aiello, V Race, E Morava, F Foulquier, M Riemersma, ...
Annals of neurology 72 (4), 550-558, 2012
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
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 (11), 669-671, 1999
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
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
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 33 (6), 727-735, 2010
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
Epilepsy in patients with Angelman syndrome
A Fiumara, A Pittalà, M Cocuzza, G Sorge
Italian journal of pediatrics 36 (1), 1-6, 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 (2), 111-113, 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
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
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
J Jaeken, J Artigas, R Barone, A Fiumara, TJ De Koning, ...
Journal of inherited metabolic disease 20 (3), 447-449, 1997
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), 1-11, 2015
Mucopolysaccharidosis VI: the Italian experience
M Scarpa, R Barone, A Fiumara, L Astarita, G Parenti, A Rampazzo, ...
European journal of pediatrics 168 (10), 1203-1206, 2009
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)
R Barone, F Nigro, F Triulzi, S Musumeci, A Fiumara, L Pavone
Neuropediatrics 30 (05), 270-274, 1999
Congenital disorders of glycosylation with emphasis on cerebellar involvement
R Barone, A Fiumara, J Jaeken
Seminars in neurology 34 (03), 357-366, 2014
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years
R Tomanin, A Zanetti, F D’Avanzo, A Rampazzo, N Gasparotto, R Parini, ...
Orphanet journal of rare diseases 9 (1), 1-16, 2014
Perrault syndrome: evidence for progressive nervous system involvement
A Fiumara, G Sorge, A Toscano, E Parano, L Pavone, JM Opitz
American Journal of Medical Genetics Part A 128 (3), 246-249, 2004
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