ANDRIA, GENEROSO

ANDRIA, GENEROSO  

Dipartimento di Neuroscienze e Scienze riproduttive ed odontostomatologiche  

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A 68-bp insertion foundin a homocystinuric patient is a common variant and is skipped by alternativesplicing of the cystathionine beta-synthase mRNA. 1-gen-1996 Sperandeo, Mp; de Franchis, R; Andria, Generoso; Sebastio, G.
A European Consortium for Lysosomal Storage Diseases 1-gen-2008 Andria, Generoso
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 1-gen-2005 Rossi, M; DE BRASI, Daniele; Hall, Cm; Battagliese, A; Melis, Daniela; Sebastio, Gianfranco; Andria, Generoso
A novel mutation of the beta-glucocerebrosidase geneassociated with neurologic manifestations in three sibs 1-gen-1998 Parenti, Giancarlo; Filocamo, M; Titomanlio, L; Rizzolo, G; Silvestro, E; Perretti, A; Gatti, R; Andria, Generoso
A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded childrenand their mothers 1-gen-1988 Sartorio, R; Greco, Luigi; Carrozzo, R; Budillon, C; Andria, Generoso
A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological and cell genetic studies 1-gen-1979 Reuser, Ajj; Andria, Generoso; de Wit Verbeek, E; Hoogeven, A; DEL GIUDICE, Ennio; Halley, D.
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 1-gen-2005 Sperandeo, Mp; Paladino, S; Maiuri, L; Maroupulos, Gd; Zurzolo, Chiara; Taglialatela, M; Andria, Generoso; Sebastio, Gianfranco
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts 1-gen-2008 Cardone, M.; Porto, C.; Tarallo, A.; Vicinanza, M.; Rossi, B.; Polishchuk, E.; Donaudy, F.; Andria, Generoso; DE MATTEIS, Maria Antonietta; Parenti, Giancarlo
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. 1-gen-2010 Scala, I; Titomanlio, L; DEL GIUDICE, Ennio; Passemard, S; Figliuolo, C; Annunziata, P; Granese, B; Scarpato, E; Verloes, A; Andria, Generoso
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. 1-gen-2007 Galletti, P; DE BONIS, Ml; Sorrentino, A; Raimo, M; D'Angelo, S; Scala, Iris; Andria, Generoso; D'Aniello, A; Ingrosso, D; Zappia, Vincenzo
Alfa-glucosidase enhancement in fibroblasts from patients with Pompe disease 1-gen-2005 Parenti, Giancarlo; Zuppaldi, A; Tuzzi, Mr; Rossi, M; Andria, Generoso
Alpha-Glutamyl-beta-naphthylamide hydrolase of rabbit small intestine. Localization in the brush border and separation fromother brush border peptidases. 1-gen-1976 Andria, Generoso; Marzi, A; Auricchio, Salvatore
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 1-gen-2004 Titomanlio, Luigi; DE BRASI, Daniele; Buoninconti, A; Sperandeo, Mp; Pepe, A; Andria, Generoso; Sebastio, Gianfranco
Le alterazioni scheletriche dell'omocistinuria in età pediatrica. 1-gen-1984 Tamburrini, O; Bartolomeo De Iuri, A; Andria, Generoso; Strisciuglio, Pietro; DEL GIUDICE, Ennio; Palescandolo, P; Sartorio, R.
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 1-gen-2006 Scala, Iris; Granese, B; Sellitto, M; Salom, S; Sammartino, A; Pepe, A; Mastroiacovo, P; Sebastio, Gianfranco; Andria, Generoso
Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients 1-gen-2003 Cianciaruso, Bruno; Pisani, Antonio; Andreucci, Mv; Parente, N; Andria, Generoso; Federico, Stefano; Sabbatini, Massimo; Sessa, A.
Approccio diagnostico alle aminoacidopatie. 1-gen-1982 Andria, Generoso; DEL GIUDICE, Ennio; Menna, G; Romano, A; Sartorio, R; Sebastio, G.
Arylamidase activities of brushborder membrane of rat intestine 1-gen-1971 Auricchio, Salvatore; Pierro, M; Andria, Generoso; DE RITIS, Giorgio
Assistenza, formazione e ricerca per le malattie genetiche rare dell’età pediatrica 1-gen-2008 Andria, Generoso
Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities 1-gen-1978 Andria, Generoso; DEL GIUDICE, Ennio; Reuser, Ajj