Search Results - "Andreucci, M V"

Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease by Spinelli, L, Pisani, A, Sabbatini, M, Petretta, M, Andreucci, MV, Procaccini, D, Lo Surdo, N, Federico, S, Cianciaruso, B

“…Fabry's disease is an X‐linked lysosomal storage disease caused by a deficiency of α‐galactosidase that results in an accumulation of neutral…”
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Upper airway obstructive disease in mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findings by Santamaria, F, Andreucci, M. V, Parenti, G, Polverino, M, Viggiano, D, Montella, S, Cesaro, A, Ciccarelli, R, Capaldo, B, Andria, G

“…In mucopolysaccharidoses, upper airway obstruction has multiple causative factors and progressive respiratory disease may severely affect morbidity and…”
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Clinical utility of CT in children with persistent focal chest abnormality by Montella, S, Andreucci, M V, Greco, L, Barbarano, F, De Stefano, S, Brunese, L, Santamaria, F

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X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability by Brunetti-Pierri, Nicola, Andreucci, Maria Vittoria, Tuzzi, Rosaria, Vega, Giovanna Roberta, Gray, George, McKeown, Carol, Ballabio, Andrea, Andria, Generoso, Meroni, Germana, Parenti, Giancarlo

“…X‐linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder characterized by abnormalities in…”
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Case of Myhre syndrome with autism and peculiar skin histological findings by Titomanlio, L., Marzano, M.G., Rossi, E., D'Armiento, M., De Brasi, D., Vega, G.R., Andreucci, M.V., Orsini, A.V.M., Santoro, L., Sebastio, G.

“…Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint…”
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Clinical utility of CT in children with persistent focal chest abnormality: Table. 1 by Montella, S., Andreucci, M. V., Greco, L., Barbarano, F., De Stefano, S., Brunese, L., Santamaria, F.

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Enzyme Replacement Therapy in Fabry Disease Patients Undergoing Dialysis: Effects on Quality of Life and Organ Involvement by Pisani, Antonio, Spinelli, Letizia, Sabbatini, Massimo, Andreucci, Maria Vittoria, Procaccini, Deni, Abbaterusso, Cataldo, Pasquali, Sonia, Savoldi, Silvana, Comotti, Cristina, Cianciaruso, Bruno

“…Background: Fabry disease is a lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. End-stage renal disease generally…”
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Fabry nephropathy in a female with superposed IgA glomerulonephritis by Pisani, A, Sessa, A, Sabbatini, M, Andreucci, M V, Fusco, C, Balletta, M, Cianciaruso, B

“…In Anderson-Fabry disease (AFd), the kidney is affected in all hemizygous males and in some heterozygous females. Female carriers can present subtle renal…”
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Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients by Cianciaruso, B, Pisani, A, Andreucci, M V, Parente, N, Andria, G, Federico, S, Sabbatini, M, Sessa, A

“…Aim of this study was to confirm the initial results of a clinical trial on the treatment of Fabry's disease carried out in 13 Italian Nephrology Units…”
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Unbalanced translocation (3;5)(q26.1;p14): A clinical report by Rossi, Massimiliano, Di Micco, Pasqua, Perone, Lucia, De Brasi, Daniele, Guzzetta, Vito, Andreucci, Maria Vittoria, Vega, Giovanna Roberta, Marzano, Maria Grazia, Iaccarino, Emilia, Andria, Generoso

“…A patient with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome had an unbalanced translocation (3;5)(q26.1;p14), causing partial 5p…”
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