ZAMMARCHI, ENRICO
ZAMMARCHI, ENRICO
Pediatria (attivo dal 01/01/1985 al 31/12/2009)
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
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
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.
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
Asymptomatic dystrophinopathy
1997 MORRONE A; E. ZAMMARCHI; DONATI MA; SCHACHERI PC; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP
Barth syndrome presenting with acute metabolic decompensation in the neonatal period.
2006 Donati MA; Malvagia S; Pasquini E; Morrone A; La Marca G; Garavaglia B; Toniolo D; Zammarchi E.
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
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.
Congenital sialidosis - from hydrops fetalis to hydrocephalus
2003 Donati M.A.; Caciotti A.; Bardelli T.; Dani C.; D'Azzo A.; Morrone A.; Zammarchi E.
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.
2008 Caciotti A; Donati MA; Adami A; Guerrini R; Zammarchi E; Morrone A.
Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants
2004 L. Filippi; A. Cecchi; M. Tronchin; C. Dani; M. Pezzati; S. Seminara; S. Gasperini; E. Zammarchi; F.F. Rubaltelli.
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
EFFECT OF RAMIPRIL IN A PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE I AND NEPHROTIC RANGE PROTEINURIA.
2001 I. PELA; M. DONATI; E. ZAMMARCHI
Fabry disease in Italy: first epidemiologic and collaborative study
2004 Ricci R; Castorina M; Di Lillo M; Antuzzi D; Frustaci A; Parini R; Menni F; Furlan F; Burlina A; Burlina A; Catuogno S; Gabrielli O; Burattini I; Borsini W; Buchner S; Ferriozzi S; Spisni C; De Vito R; Di Rocco M; Aricò M; Pistone G; Bongiorno AM; Morrone A; Cavicchi C; Zammarchi E.
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
2003 A. MORRONE; C. CAVICCHI; T. BARDELLI; D. ANTUZZI; R. PARINI; M. DI ROCCO; S. FERIOZZI; O. GABRIELLI; R. BARONE; G. PISTONE; C. SPISNI; R. RICCI; E. ZAMMARCHI
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
2006 Malvagia S; La Marca G; Casetta B; Gasperini S; Pasquini E; Donati MA; Zammarchi E
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16
2007 Malvagia S; Papi L; Morrone A; Donati MA; Ciani F; Pasquini E; la Marca G; Scholte HR; Genuardi M; Zammarchi E.
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
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
2005 Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA.
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
2004 GEORGIOU T; DROUSIOTOU A; CAMPOS Y; CACIOTTI A; SZTRIHA L; GURURAJ A; OZAND P; E. ZAMMARCHI; MORRONE A; D'AZZO A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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 | |
| 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. | |
| 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 | |
| Asymptomatic dystrophinopathy | 1997 | MORRONE A; E. ZAMMARCHI; DONATI MA; SCHACHERI PC; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP | |
| Barth syndrome presenting with acute metabolic decompensation in the neonatal period. | 2006 | Donati MA; Malvagia S; Pasquini E; Morrone A; La Marca G; Garavaglia B; Toniolo D; Zammarchi E. | |
| 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 | |
| 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. | |
| Congenital sialidosis - from hydrops fetalis to hydrocephalus | 2003 | Donati M.A.; Caciotti A.; Bardelli T.; Dani C.; D'Azzo A.; Morrone A.; Zammarchi E. | |
| Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. | 2008 | Caciotti A; Donati MA; Adami A; Guerrini R; Zammarchi E; Morrone A. | |
| Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants | 2004 | L. Filippi; A. Cecchi; M. Tronchin; C. Dani; M. Pezzati; S. Seminara; S. Gasperini; E. Zammarchi; F.F. Rubaltelli. | |
| 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 | |
| EFFECT OF RAMIPRIL IN A PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE I AND NEPHROTIC RANGE PROTEINURIA. | 2001 | I. PELA; M. DONATI; E. ZAMMARCHI | |
| Fabry disease in Italy: first epidemiologic and collaborative study | 2004 | Ricci R; Castorina M; Di Lillo M; Antuzzi D; Frustaci A; Parini R; Menni F; Furlan F; Burlina A; Burlina A; Catuogno S; Gabrielli O; Burattini I; Borsini W; Buchner S; Ferriozzi S; Spisni C; De Vito R; Di Rocco M; Aricò M; Pistone G; Bongiorno AM; Morrone A; Cavicchi C; Zammarchi E. | |
| Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers | 2003 | A. MORRONE; C. CAVICCHI; T. BARDELLI; D. ANTUZZI; R. PARINI; M. DI ROCCO; S. FERIOZZI; O. GABRIELLI; R. BARONE; G. PISTONE; C. SPISNI; R. RICCI; E. ZAMMARCHI | |
| Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. | 2006 | Malvagia S; La Marca G; Casetta B; Gasperini S; Pasquini E; Donati MA; Zammarchi E | |
| Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 | 2007 | Malvagia S; Papi L; Morrone A; Donati MA; Ciani F; Pasquini E; la Marca G; Scholte HR; Genuardi M; Zammarchi E. | |
| 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 | |
| First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. | 2005 | Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA. | |
| Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. | 2004 | GEORGIOU T; DROUSIOTOU A; CAMPOS Y; CACIOTTI A; SZTRIHA L; GURURAJ A; OZAND P; E. ZAMMARCHI; MORRONE A; D'AZZO A |