Sfoglia per Autore  ZAMMARCHI, ENRICO

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Mostrati risultati da 1 a 20 di 58
Titolo Data di pubblicazione Autore(i) File
Clinical utility of noninvasive methods in the evaluation of scleroderma lung in pediatric age 1992 F.Falcini; A.Pignone; M. Matucci Cerinic; G. Camiciottoli; G.Taccetti; s.Trapani; E.Zammarchi; A.Lombardi; G.Bartolozzi; M.Cagnoni.
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 1994 A. MORRONE; H. MORREAU; X.Y. ZHOU; E. ZAMMARCHI; W.J. KLEIJER; H. GALJAARD; A. D'AZZO
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 1995 A. MORRONE; E. PEGORARO; E. ZAMMARCHI; E. HOFFMAN; A. FIDZIANSKA; B. RYNIEWICZ; A. ILNICKA
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 1996 E. ZAMMARCHI; M. A. DONATI; A. MORRONE; G. DONZELLI; X.Y. ZHOU; A. DAZZO
MOLECULAR AND BIOCHEMICAL ANALYSIS OF PROTECTIVE PROTEIN/CATHEPSIN A MUTATIONS: CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS. 1996 Zhou XY; van der Spoel A; Rottier R; Hale G; Willemsen R; Berry GT;Strisciuglio P; Morrone A; Zammarchi E; Andria G; d'Azzo A.
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 1997 A. MORRONE; E. PEGORARO; C. ANGELINI; E. ZAMMARCHI; G. MARCONI; E.P. HOFFMAN
Asymptomatic dystrophinopathy 1997 MORRONE A; E. ZAMMARCHI; DONATI MA; SCHACHERI PC; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. 2000 G. POGGI; LAMANTEA E; CIANI F; DONATI MA; CARRARA F; BARTALENA L; GARAVAGLIA B; ZAMMARCHI E
Lethal late onset cblB methylmalonic aciduria. 2000 CIANI F; DONATI MA; TULLI G; G. POGGI; PASQUINI E; ROSENBLATT DS; ZAMMARCHI
PROLONGED EXCLUSIVE BREAST-FEEDING FROM VEGAN MOTHER CAUSING AN ACUTE ONSET OF ISOLATED METHYLMALONIC ACIDURIA DUE TO A MILD MUTASE DEFICIENCY. 2000 F. CIANI; G. POGGI; E. PASQUINI; M. DONATI; E. ZAMMARCHI
Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutation 2000 M. GIORGI; A. MORRONE; MA. DONATI; F. CIANI; T. BARDELLI; G. BIASUCCI; E. ZAMMARCHI
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 2000 PORFIRIO B; CHIARELLI I; GRAZIANO C; MANNONI A; MORRONE A; E. ZAMMARCHI; DE BERNABE' DB; DE CORDOBA S R
ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 2000 MORRONE A; BARDELLI T; DONATI MA; GIORGI M; DI ROCCO M; GATTI R; PARINI R; RICCI G; TADDEUCCI A; D'AZZO E; E. ZAMMARCHI
ALTERED THYMIDINE METABOLISM DUE TO DEFECTS OF THYMIDINE PHOSPHOLRYLASE. 2001 Spinazzola A; Marti R; Nishino I; Andreu AL; Naini A; Tadesse S; Pela I; Zammarchi E; Donati MA; Oliver JA; Hirano M.
EFFECT OF RAMIPRIL IN A PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE I AND NEPHROTIC RANGE PROTEINURIA. 2001 I. PELA; M. DONATI; E. ZAMMARCHI
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 2001 S. FUNGHINI; E. PASQUINI; M. DONATI; A. MORRONE; E. ZAMMARCHI; M. CAPPELLINI; C. FONDA
M. Altered thymidine metabolism due to defects of thymidine phosphorylase. 2002 SPINAZZOLA A; MARTI R; NISHINO I; ANDREU AL; NAINI A; TADESSE S; PELA I; E. ZAMMARCHI; DONATI MA; OLIVER JA; HIRANO M
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 2002 A. MORRONE; S. MALVAGIA; MA. DONATI; S. FUNGHINI; F.CIANI; I. PELA; A. BONEH; H. PETERS; E. PASQUINI; E. ZAMMARCHI
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 2002 BISANZI S; MORRONE A; DONATI MA; PASQUINI E; SPADA M; STRISCIUGLIO P; PARENTI G; G PARINI R; PAPADIA F; E. ZAMMARCHI
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 2002 BARDELLI T; DONATI MA; GASPERINI S; CIANI F; BELLI F; BLAU N; MORRONE A; E. ZAMMARCHI
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