Zammarchi, L. : rechercher sur Z-Library

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1

Focal spleen lesions in visceral leishmaniasis, a neglected manifestation of a neglected disease: report of three cases and systematic review of literature

Rinaldi, Francesca, Giachè, Susanna, Spinicci, Michele, Corsi, Paola, Ambu, Silvia, Gianfaldoni, Giacomo, Rigacci, Luigi, Arena, Umberto, Bartoloni, Alessandro, Zammarchi, Lorenzo

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2019

2

Multiple-dose versus single-dose ivermectin for Strongyloides stercoralis infection (Strong Treat 1 to 4): a multicentre, open-label, phase 3, randomised controlled superiority trial

Buonfrate, Dora, Salas-Coronas, Joaquin, Muñoz, José, Maruri, Begoña Trevino, Rodari, Paola, Castelli, Francesco, Zammarchi, Lorenzo, Bianchi, Leila, Gobbi, Federico, Cabezas-Fernández, Teresa, Requen

Journal:

The Lancet Infectious Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2019

3

Management of cytomegalovirus infection in pregnancy: is it time for valacyclovir?

Zammarchi, L., Lazzarotto, T., Andreoni, M., Campolmi, I., Pasquini, L., Di Tommaso, M., Simonazzi, G., Tomasoni, L.R., Castelli, F., Galli, L., Borchi, B., Clerici, P., Bartoloni, A., Tavio, M., Trot

Journal:

Clinical Microbiology and Infection

Année:

2020

Fichier:

PDF, 279 KB

2020

4

Severe prognosis in a large family with hypokalemic periodic paralysis

Anna Caciotti, Amelia Morrone, Raffaele Domenici, Maria Alice Donati, Enrico Zammarchi

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 156 KB

english, 2003

5

Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency

F. Ciani, G.M. Poggi, E. Pasquini, M.A. Donati, E. Zammarchi

Journal:

Clinical Nutrition

Année:

2000

Langue:

english

Fichier:

PDF, 42 KB

english, 2000

6

Combined Intravenous Treatment with Artesunate and Quinine for Severe Malaria in Italy

Bartoloni, A., Tomasoni, L., Bartalesi, F., Galli, L., Sani, S., Veloci, S., Zammarchi, L., Pini, A., Castelli, F.

Journal:

American Journal of Tropical Medicine and Hygiene

Année:

2010

Langue:

english

Fichier:

PDF, 416 KB

english, 2010

7

High order boundary and finite elements for 3D fracture propagation in brittle materials

Zammarchi, M., Fantoni, F., Salvadori, A., Wawrzynek, P.

Journal:

Computer Methods in Applied Mechanics and Engineering

Année:

2016

Langue:

english

Fichier:

PDF, 2.13 MB

english, 2016

8

Ultrasound findings in urogenital schistosomiasis: a pictorial essay

Cozzi, Diletta, Bertelli, Elena, Savi, Elena, Verna, Silvia, Zammarchi, Lorenzo, Tilli, Marta, Rinaldi, Francesca, Pradella, Silvia, Agostini, Simone, Miele, Vittorio

Journal:

Journal of Ultrasound

Année:

2019

Langue:

english

Fichier:

PDF, 2.07 MB

english, 2019

9

A technical-economic analysis of telemetry as a monitoring tool for crop protection in viticulture

Sarri, Daniele, Lombardo, Stefania, Pagliai, Andrea, Zammarchi, Luca, Lisci, Riccardo, Vieri, Marco

Journal:

Journal of Agricultural Engineering

Année:

2020

Fichier:

PDF, 1006 KB

2020

10

Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient

Zammarchi, Enrico, Donati, Maria Alice, Morrone, Amelia, Donzelli, Gian Paolo, Zhou, Xiao Yan, D'Azzo, Alessandra

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 631 KB

english, 1996

11

Asymptomatic dystrophinopathy

Morrone, Amelia, Zammarchi, Enrico, Scacheri, Peter C., Donati, Maria A., Hoop, Rita C., Servidei, Serenella, Galluzzi, Giuliana, Hoffman, Eric P.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 244 KB

english, 1997

12

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia

Paolo Bosco, Francesco Calì, Concetta Meli, Florindo Mollica, Enrico Zammarchi, Roberto Cerone, Cristina Vanni, Letizia Palillo, Donatella Greco, Valentino Romano

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 160 KB

english, 1998

13

β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

A. Morrone, T. Bardelli, M.A. Donati, M. Giorgi, M. Di Rocco, R. Gatti, R. Parini, R. Ricci, G. Taddeucci, A. D'Azzo, E. Zammarchi

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 345 KB

english, 2000

14

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: Identification of novel mutations

Massimo Giorgi, Amelia Morrone, M. Alice Donati, Federica Ciani, Tiziana Bardelli, Giacomo Biasucci, Enrico Zammarchi

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 69 KB

english, 2000

15

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency

A. Morrone, S. Malvagia, M.A. Donati, S. Funghini, F. Ciani, I. Pela, A. Boneh, H. Peters, E. Pasquini, E. Zammarchi

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 222 KB

english, 2002

16

MELAS: Clinical features, biochemistry, and molecular genetics

E. Ciafaloni, E. Ricci, S. Shanske, C. T. Moraes, G. Silvestri, M. Hirano, S. Simonetti, C. Angelini, M. A. Donati, C. Garcia, A. Martinuzzi, R. Mosewich, S. Servidei, E. Zammarchi, E. Bonilla, D. C.

Journal:

Annals of Neurology

Année:

1992

Langue:

english

Fichier:

PDF, 704 KB

english, 1992

17

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

Amelia Morrone, Hans Morreau, Xiao Yan Zhou, Enrico Zammarchi, Wim J. Kleijer, Hans Galjaard, Alessandra d'Azzo

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.42 MB

english, 1994

18

Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

Anna Caciotti, Maria Alice Donati, Avihu Boneh, Alessandra d'Azzo, Antonio Federico, Rossella Parini, Danielas Antuzzi, Tiziana Bardelli, Daniele Nosi, Virginia Kimonis, Enrico Zammarchi, Amelia Morro

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 323 KB

english, 2005

19

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions

S. Funghini, M.A. Donati, E. Pasquini, E. Zammarchi, A. Morrone

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 52 KB

english, 2003

20

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone, A. D'Azzo

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 253 KB

english, 2004

21

Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone, A. D'Azzo

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 232 KB

english, 2004

22

Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS

G. la Marca, S. Malvagia, B. Casetta, E. Pasquini, I. Pela, M. Hirano, M. A. Donati, E. Zammarchi

Journal:

Journal of Mass Spectrometry

Année:

2006

Langue:

english

Fichier:

PDF, 215 KB

english, 2006

23

Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples

Giancarlo la Marca, Bruno Casetta, Sabrina Malvagia, Elisabetta Pasquini, Marzia Innocenti, Maria Alice Donati, Enrico Zammarchi

Journal:

Journal of Mass Spectrometry

Année:

2006

Langue:

english

Fichier:

PDF, 829 KB

english, 2006

24

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening

Sabrina Malvagia, Giancarlo la Marca, Bruno Casetta, Serena Gasperini, Elisabetta Pasquini, Maria Alice Donati, Enrico Zammarchi

Journal:

Journal of Mass Spectrometry

Année:

2006

Langue:

english

Fichier:

PDF, 100 KB

english, 2006

25

Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency

C. Cavicchi, S. Malvagia, G. la Marca, S. Gasperini, M.A. Donati, E. Zammarchi, R. Guerrini, A. Morrone, E. Pasquini

Journal:

Journal of Pharmaceutical and Biomedical Analysis

Année:

2009

Langue:

english

Fichier:

PDF, 234 KB

english, 2009

26

An HPLC-linked non-radiochemical assay of OPRT and ODC activity in erythrocytes: One case of orotic aciduria

V. Micheli, G. Jacomelli, E. Zammarchi, G. Pompucci

Journal:

Clinical Biochemistry

Année:

1997

Langue:

english

Fichier:

PDF, 128 KB

english, 1997

27

Enzyme activities leading to NAD synthesis in the erythrocytes of HPRT deficient subjects

S. Sestini, V. Micheli, M. Rocchigiani, G. Jacomelli, F. Manzoni, B. Gathof, G. Hayek, F. Cardona, E. Zammarchi, G. Pompucci

Journal:

Clinical Biochemistry

Année:

1997

Langue:

english

Fichier:

PDF, 124 KB

english, 1997

28

COMBINED DEFICIENCY OF PYRUVATE DEHYDROGENASE AND MITOCHONDRIAL RESPIRATOR CHAIN COMPLEX I: CASE REPORT

S. Lori, M.A. Donati, S. Gasperini, M.R. Bardini, R. Nistri, G. Poggi, B. Garavaglia, E. Zammarchi

Journal:

Journal of the Peripheral Nervous System

Année:

2002

Langue:

english

Fichier:

PDF, 129 KB

english, 2002

29

Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 81

S Lori, A Fasulo, MF Reali, R Nistri, S Toni, MR Bardini, E Zammarchi

Journal:

Journal of the Peripheral Nervous System

Année:

2003

Langue:

english

Fichier:

PDF, 295 KB

english, 2003

30

MMTV-like sequences in human breast cancer: a fluorescent PCR/laser microdissection approach

F Zammarchi, M Pistello, A Piersigilli, R Murr, C Di Cristofano, AG Naccarato, G Bevilacqua

Journal:

The Journal of Pathology

Année:

2006

Langue:

english

Fichier:

PDF, 571 KB

english, 2006

31

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

Sabrina Malvagia, Amelia Morrone, Elisabetta Pasquini, Silvia Funghini, Giancarlo la Marca, Enrico Zammarchi, Maria Alice Donati

Journal:

Prenatal Diagnosis

Année:

2005

Langue:

english

Fichier:

PDF, 55 KB

english, 2005

32

Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria

Valentino Romano, Irma Dianzani, Alberto Ponzone, Enrico Zammarchi, Randi Eisensmith, Nadia Ceratto, Paolo Bosco, Anna Indelicato

Journal:

Prenatal Diagnosis

Année:

1994

Langue:

english

Fichier:

PDF, 311 KB

english, 1994

33

Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry

Giancarlo la Marca, Sabrina Malvagia, Maria Alice Donati, Amelia Morrone, Elisabetta Pasquini, Enrico Zammarchi

Journal:

Rapid Communications in Mass Spectrometry

Année:

2003

Langue:

english

Fichier:

PDF, 611 KB

english, 2003

34

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry

Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, Maria Alice Donati, Serena Gasperini, Elena Procopio, Enrico Zammarchi

Journal:

Rapid Communications in Mass Spectrometry

Année:

2005

Langue:

english

Fichier:

PDF, 149 KB

english, 2005

35

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs

Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, Marzia Innocenti, Maira Rebollido Fernandez, Maria Alice Donati, Enrico Zammarchi

Journal:

Rapid Communications in Mass Spectrometry

Année:

2008

Langue:

english

Fichier:

PDF, 250 KB

english, 2008

36

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program

Giancarlo la Marca, Sabrina Malvagia, Silvia Funghini, Elisabetta Pasquini, Gloriano Moneti, Renzo Guerrini, Enrico Zammarchi

Journal:

Rapid Communications in Mass Spectrometry

Année:

2009

Langue:

english

Fichier:

PDF, 171 KB

english, 2009

37

Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method

Giancarlo la Marca, Bruno Casetta, Enrico Zammarchi

Journal:

Rapid Communications in Mass Spectrometry

Année:

2003

Langue:

english

Fichier:

PDF, 90 KB

english, 2003

38

Familial infantile myasthenia: a neuromuscular cause of respiratory failure

E. Zammarchi, M. A. Donati, S. Masi, A. Sarti, S. Castelli

Journal:

Child's Nervous System

Année:

1994

Langue:

english

Fichier:

PDF, 242 KB

english, 1994

39

Different neurologic outcomes in two patients with neonatal hyperinsulinemic hypoglycemia

Enrico Zammarchi, Luca Filippi, Claudio Fonda, P. Alberto Benedetti, Daniela Pistone, M. Alice Donati

Journal:

Child's Nervous System

Année:

1996

Langue:

english

Fichier:

PDF, 1.10 MB

english, 1996

40

Hepatitis C virus antibodies in a long-term follow-up of beta-thalassaemic children with acute and chronic non-A non-B hepatitis

M. Resti, C. Azzari, M. E. Rossi, C. Vullo, E. Zammarchi, A. Vierucci

Journal:

European Journal of Pediatrics

Année:

1992

Langue:

english

Fichier:

PDF, 414 KB

english, 1992

41

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

A. Caciotti, M. Di Rocco, M. Filocamo, S. Grossi, F. Traverso, A. d’Azzo, C. Cavicchi, A. Messeri, R. Guerrini, E. Zammarchi, M. A. Donati, Amelia Morrone

Journal:

Journal of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 170 KB

english, 2009

42

Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants

Luca Filippi, Alessandra Cecchi, Michele Tronchin, Carlo Dani, Marco Pezzati, Salvatore Seminara, Serena Gasperini, Enrico Zammarchi, FirminoF. Rubaltelli

Journal:

European Journal of Pediatrics

Année:

2004

Langue:

english

Fichier:

PDF, 246 KB

english, 2004

43

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

Daniela Melis, Rossella Fulceri, Giancarlo Parenti, Paola Marcolongo, Rosanna Gatti, Rossella Parini, Enrica Riva, Roberto Della Casa, Enrico Zammarchi, Generoso Andria, Angelo Benedetti

Journal:

European Journal of Pediatrics

Année:

2005

Langue:

english

Fichier:

PDF, 221 KB

english, 2005

44

Modulating action of the new polymorphism L436F detected in theGLB1gene of a type-II GM1 gangliosidosis patient

Anna Caciotti, Tiziana Bardelli, John Cunningham, Alessandra D'Azzo, Enrico Zammarchi, Amelia Morrone

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 249 KB

english, 2003

45

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies

S. Funghini, A. Morrone, E. Pasquini, E. Zammarchi, M. A. Donati

Journal:

Journal of Inherited Metabolic Disease

Année:

2005

Langue:

english

Fichier:

PDF, 74 KB

english, 2005

46

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency

C. Cavicchi, M. A. Donati, E. Pasquini, G. M. Poggi, C. Dionisi-Vici, R. Parini, E. Zammarchi, A. Morrone

Journal:

Journal of Inherited Metabolic Disease

Année:

2005

Langue:

english

Fichier:

PDF, 83 KB

english, 2005

47

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

Maria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, Amelia Morrone, Giancarlo La Marca, Barbara Garavaglia, Daniela Toniolo, Enrico Zammarchi

Journal:

Journal of Inherited Metabolic Disease

Année:

2006

Langue:

english

Fichier:

PDF, 136 KB

english, 2006

48

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests

G. la Marca, S. Malvagia, B. Casetta, E. Pasquini, M. A. Donati, E. Zammarchi

Journal:

Journal of Inherited Metabolic Disease

Année:

2008

Langue:

english

Fichier:

PDF, 246 KB

english, 2008

49

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria

C Cavicchi, MA Donati, S Funghini, G La Marca, S Malvagia, F Ciani, GM Poggi, E Pasquini, E Zammarchi, A Morrone

Journal:

Clinical Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2006

50

Food-additive intolerance and its correlation with atopy in children with recurrent or intermittent urticaria-angioedema

M. de Martino, M. Peruzzi, L. Galli, L. Lega, E. Zammarchi, A. Vierucci

Journal:

Pediatric Allergy and Immunology

Année:

1992

Langue:

english

Fichier:

PDF, 565 KB

english, 1992