ZAMMARCHI, Enrico: search on Z-Library

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1

Severe prognosis in a large family with hypokalemic periodic paralysis

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

Journal:

Year:

2003

Language:

english

File:

PDF, 156 KB

english, 2003

2

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

Year:

1996

Language:

english

File:

PDF, 631 KB

english, 1996

3

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

Year:

1997

Language:

english

File:

PDF, 244 KB

english, 1997

4

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:

Year:

1998

Language:

english

File:

PDF, 160 KB

english, 1998

5

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:

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

6

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:

Year:

1994

Language:

english

File:

PDF, 1.42 MB

english, 1994

7

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:

Year:

2005

Language:

english

File:

PDF, 323 KB

english, 2005

8

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

Year:

2006

Language:

english

File:

PDF, 829 KB

english, 2006

9

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

Year:

2006

Language:

english

File:

PDF, 100 KB

english, 2006

10

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

Year:

2005

Language:

english

File:

PDF, 55 KB

english, 2005

11

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

Year:

1994

Language:

english

File:

PDF, 311 KB

english, 1994

12

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

Year:

2003

Language:

english

File:

PDF, 611 KB

english, 2003

13

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

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005

14

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

Year:

2008

Language:

english

File:

PDF, 250 KB

english, 2008

15

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

Year:

2009

Language:

english

File:

PDF, 171 KB

english, 2009

16

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

Year:

2003

Language:

english

File:

PDF, 90 KB

english, 2003

17

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

Year:

1996

Language:

english

File:

PDF, 1.10 MB

english, 1996

18

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

Year:

2004

Language:

english

File:

PDF, 246 KB

english, 2004

19

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

Year:

2005

Language:

english

File:

PDF, 221 KB

english, 2005

20

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:

Year:

2003

Language:

english

File:

PDF, 249 KB

english, 2003

21

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

Year:

2006

Language:

english

File:

PDF, 136 KB

english, 2006

22

The potential action of galactose as a “chemical chaperone”: Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient

Anna Caciotti, Maria Alice Donati, Alessandra d'Azzo, Rosa Salvioli, Renzo Guerrini, Enrico Zammarchi, Amelia Morrone

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 177 KB

english, 2009

23

Low-dose folic acid supplementation reduces plasma levels of the cardiovascular risk factor homocysteine in postmenopausal women

Vincenzo De Leo, Antonio la Marca, Giuseppe Morgante, Federica Ciani, Enrico Zammarchi, Carlo Setacci

Journal:

American Journal of Obstetrics and Gynecology

Year:

2000

Language:

english

File:

PDF, 85 KB

english, 2000

24

Effect of Different Intravenous Immunoglobulin Regimens on Hemorrhages, Platelet Numbers and Volume in a Child with Wiskott-Aldrich Syndrome

Maurizio de Martino, Luisa Galli, Chiara Azzari, Enrico Zammarchi, Alberto Vierucci

Journal:

Year:

1994

Language:

english

File:

PDF, 233 KB

english, 1994

25

Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis

Enrico Zammarchi, Maria Alice Donati, Fabio Tucci, Claudio Fonda, Fabio Fanelli, Roberto Pazzaglia

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 242 KB

english, 1994

26

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the β-galactosidase/neuraminidase complex and the EBP-receptor

Sabrina Malvagia, Amelia Morrone, Anna Caciotti, Tiziana Bardelli, Alessandra d’Azzo, Gina Ancora, Enrico Zammarchi, Maria Alice Donati

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 752 KB

english, 2004

27

Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients

Anna Caciotti, Maria Alice Donati, Tiziana Bardelli, Alessandra d'Azzo, Graziella Massai, Luciana Luciani, Enrico Zammarchi, Amelia Morrone

Journal:

The American Journal of Pathology

Year:

2005

Language:

english

File:

PDF, 772 KB

english, 2005

28

Structure and mutation analysis of the glycogen storage disease type 1b gene

Paola Marcolongo, Virginia Barone, Giuseppina Priori, Barbara Pirola, Sabrina Giglio, Giacomo Biasucci, Enrico Zammarchi, Giancarlo Parenti, Ann Burchell, Angelo Benedetti, Vincenzo Sorrentino

Journal:

Year:

1998

Language:

english

File:

PDF, 74 KB

english, 1998

29

Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuriasyndrome with favorable outcome

Enrico Zammarchi, Federica Ciani, Elisabetta Pasquini, Giuseppe Bonocore, Vivian E. Shih, Maria A. Donati

Journal:

The Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 1.02 MB

english, 1997

30

Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia

Enrico Zammarchi, Luca Filippi, Elio Novembre, Maria Alice Donati

Journal:

Year:

1996

Language:

english

File:

PDF, 391 KB

english, 1996

31

Self-mutilation in a patient with mucolipidosis III

Enrico Zammarchi, Angela Savelli, Maria A. Donati, Elisabetta Pasquini

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 310 KB

english, 1994

32

The preventive effect and duration of action of two doses of inhaled furosemide on exercise-induced asthma in children

Novembre, Elio, Frongia, Gianfranco, Lombardi, Enrico, Resti, Massimo, Zammarchi, Enrico, Vierucci, Alberto

Journal:

Journal of Allergy and Clinical Immunology

Year:

1995

Language:

english

File:

PDF, 324 KB

english, 1995

33

New Strategy for the Screening of Lysosomal Storage Disorders: The Use of the Online Trapping-and-Cleanup Liquid Chromatography/Mass Spectrometry

la Marca, Giancarlo, Casetta, Bruno, Malvagia, Sabrina, Guerrini, Renzo, Zammarchi, Enrico

Journal:

Analytical Chemistry

Year:

2009

Language:

english

File:

PDF, 3.95 MB

english, 2009

34

The Arg482His Mutation in the β-Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village

Georgiou, Theodoros, Stylianidou, Goula, Anastasiadou, Violetta, Caciotti, Anna, Campos, Yvan, Zammarchi, Enrico, Morrone, Amelia, D'azzo, Alessandra, Drousiotou, Anthi

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 144 KB

english, 2005

35

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Stanley, Charles A., Lieu, Yen K., Hsu, Betty Y.L., Burlina, Alberto B., Greenberg, Cheryl R., Hopwood, Nancy J., Perlman, Kusiel, Rich, Barry H., Zammarchi, Enrico, Poncz, Mortimer

Journal:

Boston Medical and Surgical Journal

Year:

1998

Language:

english

File:

PDF, 101 KB

english, 1998

36

High prevalence of clustered tuberculosis cases in Peruvian migrants in Florence, Italy

Zammarchi, Lorenzo, Tortoli, Enrico, Borroni, Emanuele, Bartalesi, Filippo, Strohmeyer, Marianne, Baretti, Simonetta, Simonetti, Maria Tullia, Liendo, Carola, Santini, Maria Grazia, Rossolini, Gian Ma

Journal:

Infectious Disease Reports

Year:

2014

Language:

english

File:

PDF, 253 KB

english, 2014

37

The De Novo Q167K Mutation in the POU1F1 Gene Leads to Combined Pituitary Hormone Deficiency in an Italian Patient

Malvagia, Sabrina, Poggi, Giovanni Maria, Pasquini, Elisabetta, Donati, Maria Alice, Pela, Ivana, Morrone, Amelia, Zammarchi, Enrico

Journal:

Pediatric Research

Year:

2003

Language:

english

File:

PDF, 353 KB

english, 2003

38

The Synergistic Activity of Thyroid Transcription Factor 1 and Pax 8 Relies on the Promoter/Enhancer Interplay

Miccadei, Stefania, De Leo, Rossana, Zammarchi, Enrico, Natali, Pier Giorgio, Civitareale, Donato

Journal:

Molecular Endocrinology

Year:

2002

Language:

english

File:

PDF, 353 KB

english, 2002

39

Lethal late onset cblB methylmalonic aciduria

Ciani, Federica, Donati, Maria A., Tulli, Giovanni, Poggi, Giovanni M., Pasquini, Elisabetta, Rosenblatt, David S., Zammarchi, Enrico

Journal:

Critical Care Medicine

Year:

2000

Language:

english

File:

PDF, 64 KB

english, 2000

40

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance

Caciotti, Anna, Donati, Maria Alice, Adami, Andrea, Guerrini, Renzo, Zammarchi, Enrico, Morrone, Amelia

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2008

Language:

english

File:

PDF, 75 KB

english, 2008

41

Pathogenic Mechanism, Prophylaxis, and Therapy of Symptomatic Acidosis Induced by Acetazolamide

Filippi, Luca, Bagnoli, Franco, Margollicci, Maria, Zammarchi, Enrico, Tronchin, Michele, Rubaltelli, Firmino F.

Journal:

Journal of Investigative Medicine

Year:

2002

Language:

english

File:

PDF, 140 KB

english, 2002

42

Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems

LEUZZI, Rosanna, FULCERI, Rosella, MARCOLONGO, Paola, BÁNHEGYI, Gábor, ZAMMARCHI, Enrico, STAFFORD, Kirsten, BURCHELL, Ann, BENEDETTI, Angelo

Journal:

Biochemical Journal

Year:

2001

Language:

english

File:

PDF, 122 KB

english, 2001

43

Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems

LEUZZI, Rosanna, FULCERI, Rosella, MARCOLONGO, Paola, BÁNHEGYI, Gábor, ZAMMARCHI, Enrico, STAFFORD, Kirsten, BURCHELL, Ann, BENEDETTI, Angelo

Journal:

Biochemical Journal

Year:

2001

Language:

english

File:

PDF, 122 KB

english, 2001

44

Italian Modernities: Competing Narratives of Nationhood

Zammarchi, Enrico

Journal:

Italian Studies

Year:

2018

Language:

english

File:

PDF, 586 KB

english, 2018

45

Effect of Different Intravenous Immunoglobulin Regimens on Hemorrhages, Platelet Numbers and Volume in a Child with Wiskott-Aldrich Syndrome

de Martino, Maurizio, Galli, Luisa, Azzari, Chiara, Zammarchi, Enrico, Vierucci, Alberto

Journal:

Year:

1994

File:

PDF, 337 KB

1994