PubMed

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.

Am J Med Genet A. 2009 Feb 15;149A(4):722-5.PMID: 19253388 [PubMed - indexed for MEDLINE]Related articles

Mucopolysaccharidosis VI: the Italian experience.

Scarpa M, Barone R, Fiumara A, Astarita L, Parenti G, Rampazzo A, Sala S, Sorge G, Parini R.

Eur J Pediatr. 2009 Oct;168(10):1203-6. Epub 2009 Jan 7.PMID: 19130082 [PubMed - in process]Related articles

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

Barone R, Sturiale L, Sofia V, Ignoto A, Fiumara A, Sorge G, Garozzo D, Zappia M.

Am J Med Genet A. 2008 Aug 15;146A(16):2103-8.PMID: 18629883 [PubMed - indexed for MEDLINE]Related articles

Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?

Greco F, Fiumara A, Sorge G, Pavone L.

Childs Nerv Syst. 2008 Dec;24(12):1479-81. Epub 2008 Jun 25.PMID: 18575872 [PubMed - indexed for MEDLINE]Related articles

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.

Di Natale P, Villani GR, Parini R, Scarpa M, Parenti G, Pontarelli G, Grosso M, Sersale G, Tomanin R, Sibilio M, Barone R, Fiumara A.

Biotechnol Appl Biochem. 2008 Mar;49(Pt 3):219-23.PMID: 17672828 [PubMed - indexed for MEDLINE]Related articles

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.

Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, Wenger D, Fiumara A.

Hum Mutat. 2007 Jul;28(7):742.PMID: 17579360 [PubMed - indexed for MEDLINE]Related articles

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A.

Hum Mutat. 2007 Feb;28(2):204.PMID: 17221873 [PubMed - indexed for MEDLINE]Related articles

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J.

J Inherit Metab Dis. 2007 Feb;30(1):107. Epub 2006 Dec 20.PMID: 17186415 [PubMed - indexed for MEDLINE]Related articles

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.

Teresa E, Lonardo F, Fiumara A, Lombardi C, Russo P, Zuppi C, Scarano G, Musumeci S, Gianfrancesco F.

Mol Genet Metab. 2006 Jun;88(2):192-5. Epub 2006 Apr 4.PMID: 16600650 [PubMed - indexed for MEDLINE]Related articles

Progressive cavitating leukoencephalopathy: a novel childhood disease.

Naidu S, Bibat G, Lin D, Burger P, Barker P, Rosemberg S, Braverman N, Arroyo H, Dowling M, Hamosh A, Kimonis V, Blank C, Fiumara A, Facchini S, Singhal B, Moser H, Kelley R, DiMauro S.

Ann Neurol. 2005 Dec;58(6):929-38.PMID: 16315274 [PubMed - indexed for MEDLINE]Related articles

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Sturiale L, Barone R, Fiumara A, Perez M, Zaffanello M, Sorge G, Pavone L, Tortorelli S, O'Brien JF, Jaeken J, Garozzo D.

Glycobiology. 2005 Dec;15(12):1268-76. Epub 2005 Jul 21.PMID: 16037488 [PubMed - indexed for MEDLINE]Related articlesFree article

Epilepsy is not a prominent feature of primary autism.

Pavone P, Incorpora G, Fiumara A, Parano E, Trifiletti RR, Ruggieri M.

Neuropediatrics. 2004 Aug;35(4):207-10.PMID: 15328558 [PubMed - indexed for MEDLINE]Related articles

Perrault syndrome: evidence for progressive nervous system involvement.

Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM.

Am J Med Genet A. 2004 Jul 30;128A(3):246-9.PMID: 15216544 [PubMed - indexed for MEDLINE]Related articles

Startle epilepsy complicating aspartylglucosaminuria.

Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A.

Brain Dev. 2004 Mar;26(2):130-3.PMID: 15036433 [PubMed - indexed for MEDLINE]Related articles

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.

Fiumara A, van Kuilenburg AB, Caruso U, Nucifora C, Marzullo E, Barone R, Meli C, van Gennip AH.

J Inherit Metab Dis. 2003;26(4):407-9.PMID: 12971429 [PubMed - indexed for MEDLINE]Related articles

Autism and phenylketonuria.

Baieli S, Pavone L, Meli C, Fiumara A, Coleman M.

J Autism Dev Disord. 2003 Apr;33(2):201-4.PMID: 12757360 [PubMed - indexed for MEDLINE]Related articles

Association study of autistic disorder and chromosome 16p.

Lucarelli P, Palminiello S, Saccucci P, Bottini N, De Luca D, Elia M, Fiumara A, Curatolo P.

Am J Med Genet A. 2003 Jun 1;119A(2):242-6. No abstract available. PMID: 12749074 [PubMed - indexed for MEDLINE]Related articles

Mutation analysis of the MECP2 gene in patients with Rett syndrome.

Conforti FL, Mazzei R, Magariello A, Patitucci A, Gabriele AL, Muglia M, Quattrone A, Fiumara A, Barone R, Pavone L, Nisticò R, Mangone L.

Am J Med Genet A. 2003 Mar 1;117A(2):184-7. No abstract available. PMID: 12567420 [PubMed - indexed for MEDLINE]Related articles

Rett syndrome phenotype following infantile acute encephalopathy.

Fiumara A, Polizzi A, Mazzei R, Conforti L, Magariello A, Sorge G, Pavone L.

J Child Neurol. 2002 Sep;17(9):700-2.PMID: 12503649 [PubMed - indexed for MEDLINE]Related articles

Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.

Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA.

Neuropediatrics. 2002 Aug;33(4):203-8.PMID: 12368991 [PubMed - indexed for MEDLINE]Related articles

Assessment of skeletal status in patients with congenital disorder of glycosylation type IA.

Barone R, Pavone V, Pennisi P, Fiumara A, Fiore CE.

Int J Tissue React. 2002;24(1):23-8.PMID: 12013150 [PubMed - indexed for MEDLINE]Related articles

Two-loci ADA haplotypes in autistic disorder.

Lucarelli P, Saccucci P, Bottini N, De Luca D, Fiumara A, Elia M, Bottini N, Porfirio MC, Curatolo P.

Am J Med Genet. 2002 Apr 1;108(4):339-40. No abstract available. PMID: 11920843 [PubMed - indexed for MEDLINE]Related articles

White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.

Barone R, Parano E, Trifiletti RR, Fiumara A, Pavone P.

J Neurol Sci. 2002 Mar 30;195(2):171-5.PMID: 11897250 [PubMed - indexed for MEDLINE]Related articles

Extraneurologic symptoms as presenting signs of Sanfilippo disease.

Barone R, Fiumara A, Villani GR, Di Natale P, Pavone L.

Pediatr Neurol. 2001 Sep;25(3):254-7.PMID: 11587884 [PubMed - indexed for MEDLINE]Related articles

Autism: evidence of association with adenosine deaminase genetic polymorphism.

Bottini N, De Luca D, Saccucci P, Fiumara A, Elia M, Porfirio MC, Lucarelli P, Curatolo P.

Neurogenetics. 2001 Mar;3(2):111-3.PMID: 11354825 [PubMed - indexed for MEDLINE]Related articles

beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I.

Beccari T, Mancuso F, Costanzi E, Tassi C, Barone R, Fiumara A, Orlacchio A, Aisa MC, Orlacchio A.

Clin Chim Acta. 2000 Dec;302(1-2):125-32.PMID: 11074069 [PubMed - indexed for MEDLINE]Related articles

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, Hennet T, Imbach T, Stutz A, Bjursell C, Uller A, Wahlström JG, Briones P, Cardo E, Clayton P, Winchester B, Cormier-Dalre V, de Lonlay P, Cuer M, Dupré T, Seta N, de Koning T, Dorland L, de Loos F, Kupers L, et al.

Glycoconj J. 1999 Nov;16(11):669-71. No abstract available. PMID: 11003549 [PubMed - indexed for MEDLINE]Related articles

Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

Di Rocco M, Barone R, Adami A, Burlina A, Carrozzi M, Dionisi-Vici C, Gatti R, Iannetti P, Parini R, Raucci U, Roccella M, Spada M, Fiumara A.

J Inherit Metab Dis. 2000 Jun;23(4):391-5. No abstract available. PMID: 10896302 [PubMed - indexed for MEDLINE]Related articles

Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I.

Barone R, Giuffrida G, Musso R, Carpinteri G, Fiumara A.

J Inherit Metab Dis. 2000 Jun;23(4):387-90. No abstract available. PMID: 10896301 [PubMed - indexed for MEDLINE]Related articles

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.

Abeling NG, Bräutigam C, Hoffmann GF, Barth PG, Wevers RA, Jaeken J, Fiumara A, Knust A, van Gennip AH.

J Inherit Metab Dis. 2000 Jun;23(4):325-8. No abstract available. PMID: 10896285 [PubMed - indexed for MEDLINE]Related articles

Extraordinary bone involvement in a gaucher disease type I patient.

Barone R, Pavone V, Nigro F, Chabàs A, Fiumara A.

Br J Haematol. 2000 Mar;108(4):838-41.PMID: 10792292 [PubMed - indexed for MEDLINE]Related articles

Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome).

Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L.

Neuropediatrics. 1999 Oct;30(5):270-4.PMID: 10598840 [PubMed - indexed for MEDLINE]Related articles

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

Fiumara A, Sciotto A, Barone R, D'Asero G, Munda S, Parano E, Pavone L.

Pediatr Neurol. 1999 Sep;21(3):619-21.PMID: 10513687 [PubMed - indexed for MEDLINE]Related articles

Rett syndrome: photographic evidence of rapid regression.

Fiumara A, Barone R, D'Asero G, Marzullo E, Pavone L.

J Child Neurol. 1999 Aug;14(8):550-2. Erratum in: J Child Neurol 2000 Mar;15(3):206. PMID: 10456770 [PubMed - indexed for MEDLINE]Related articles

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

Barone R, Pavone L, Fiumara A, Bianchini R, Jaeken J.

Brain Dev. 1999 Jun;21(4):260-3.PMID: 10392749 [PubMed - indexed for MEDLINE]Related articles

Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome.

Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A.

Am J Med Genet. 1998 Dec 4;80(4):403-5.PMID: 9856572 [PubMed - indexed for MEDLINE]Related articles

Brief report: autistic behaviors among children with fragile X or Rett syndrome: implications for the classification of pervasive developmental disorder.

Mazzocco MM, Pulsifer M, Fiumara A, Cocuzza M, Nigro F, Incorpora G, Barone R.

J Autism Dev Disord. 1998 Aug;28(4):321-8. No abstract available. PMID: 9711488 [PubMed - indexed for MEDLINE]Related articles

[Melnick-Needles syndrome. Report of a case]

Greco F, Mauceri L, Finocchiaro M, Fiumara A, Sorge G.

Pediatr Med Chir. 1998 Mar-Apr;20(2):149-52. Italian. PMID: 9706640 [PubMed - indexed for MEDLINE]Related articles

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Barone R, Carchon H, Jansen E, Pavone L, Fiumara A, Bosshard NU, Gitzelmann R, Jaeken J.

J Inherit Metab Dis. 1998 Apr;21(2):167-72.PMID: 9584269 [PubMed - indexed for MEDLINE]Related articles

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E.

J Inherit Metab Dis. 1997 Jul;20(3):447-9. No abstract available. PMID: 9266378 [PubMed - indexed for MEDLINE]Related articles

Negative/low expression of the Met/hepatocyte growth factor receptor identifies papillary thyroid carcinomas with high risk of distant metastases.

Belfiore A, Gangemi P, Costantino A, Russo G, Santonocito GM, Ippolito O, Di Renzo MF, Comoglio P, Fiumara A, Vigneri R.

J Clin Endocrinol Metab. 1997 Jul;82(7):2322-8.PMID: 9215314 [PubMed - indexed for MEDLINE]Related articlesFree article

Autism and celiac disease: failure to validate the hypothesis that a link might exist.

Pavone L, Fiumara A, Bottaro G, Mazzone D, Coleman M.

Biol Psychiatry. 1997 Jul 1;42(1):72-5.PMID: 9193744 [PubMed - indexed for MEDLINE]Related articles

Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A.

Am J Med Genet. 1997 Jun 27;70(4):437-43.PMID: 9182788 [PubMed - indexed for MEDLINE]Related articles

In situ evidence of neoplastic cell phagocytosis by macrophages in papillary thyroid cancer.

Fiumara A, Belfiore A, Russo G, Salomone E, Santonocito GM, Ippolito O, Vigneri R, Gangemi P.

J Clin Endocrinol Metab. 1997 May;82(5):1615-20.PMID: 9141559 [PubMed - indexed for MEDLINE]Related articlesFree article

[Early-onset hyperthyroidism with muscle involvement: a report on a patient]

Greco F, Caruso M, Falsaperla R, Fiumara A, Parano E.

Pediatr Med Chir. 1996 Nov-Dec;18(6):611-3. Review. Italian. PMID: 9173411 [PubMed - indexed for MEDLINE]Related articles

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns WB, Jaeken J.

J Neurol. 1996 Oct;243(10):700-5.PMID: 8923302 [PubMed - indexed for MEDLINE]Related articles

Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.

Fiumara A, Barone R, Buttitta P, Musso R, Pavone L, Nigro F, Jaeken J.

Thromb Haemost. 1996 Oct;76(4):502-4.PMID: 8902985 [PubMed - indexed for MEDLINE]Related articles

Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1).

Matthijs G, Legius E, Schollen E, Vandenberk P, Jaeken J, Barone R, Fiumara A, Visser G, Lambert M, Cassiman JJ.

Genomics. 1996 Aug 1;35(3):597-9.PMID: 8812498 [PubMed - indexed for MEDLINE]Related articles

Familial Dandy-Walker variant in CDG syndrome.

Fiumara A, Barone R, Nigro F, Sorge G, Pavone L.

Am J Med Genet. 1996 May 17;63(2):412-3. No abstract available. PMID: 8725797 [PubMed - indexed for MEDLINE]Related articles

Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease).

Barone R, Brühl K, Stoeter P, Fiumara A, Pavone L, Beck M.

Am J Med Genet. 1996 May 3;63(1):209-17.PMID: 8723112 [PubMed - indexed for MEDLINE]Related articles