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1

Assessing math attitude through the Attitude Toward Mathematics Inventory – Short form in introductory statistics course students

Primi, Caterina, Bacherini, Alice, Beccari, Carola, Donati, Maria Anna

Journal:

Studies in Educational Evaluation

Year:

2020

File:

PDF, 879 KB

2020

2

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

3

New clinical and molecular insights on Barth syndrome

Lorenzo Ferri, Maria Alice Donati, Silvia Funghini…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 479 KB

english, 2013

4

Galactosialidosis: review and analysis ofCTSAgene mutations

Anna Caciotti, Serena Catarzi, Rodolfo Tonin, Licia Lugli, Carmen Rodriguez Perez, Helen Michelakakis, Irene Mavridou, Maria Alice Donati, Renzo Guerrini, Alessandra d’Azzo, Amelia Morrone…show all 11

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 320 KB

english, 2013

5

Sudden unexpected fatal encephalopathy in adults withOTCgene mutations-Clues for early diagnosis and timely treatment

Catia Cavicchi,Maria Alice Donati,Rossella Parini…

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.17 MB

english, 2014

6

Towards a sustainable diet combining economic, environmental and nutritional objectives

Donati, Michele, Menozzi, Davide, Zighetti, Camilla, Rosi, Alice, Zinetti, Anna, Scazzina, Francesca

Journal:

Year:

2016

Language:

english

File:

PDF, 561 KB

english, 2016

7

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Valayannopoulos, Vassili, Baruteau, Julien, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L., Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 948 KB

english, 2016

8

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Parini, Rossella, De Lorenzo, Paola, Dardis, Andrea, Burlina, Alberto, Cassio, Alessandra, Cavarzere, Paolo, Concolino, Daniela, Della Casa, Roberto, Deodato, Federica, Donati, Maria Alice, Fiumara, A

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 699 KB

english, 2018

9

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

Chakrapani, Anupam, Valayannopoulos, Vassili, Segarra, Nuria García, Del Toro, Mireia, Donati, Maria Alice, García-Cazorla, Angeles, González, María Julieta, Plisson, Celine, Giordano, Vincenzo

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1023 KB

english, 2018

10

Maternal suicide in Italy

Lega, Ilaria, Maraschini, Alice, D’Aloja, Paola, Andreozzi, Silvia, Spettoli, Daniela, Giangreco, Manuela, Vichi, Monica, Loghi, Marzia, Donati, Serena

Journal:

Archives of Women's Mental Health

Year:

2019

File:

PDF, 687 KB

2019

11

Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

Brambilla, Alice, Olivotto, Iacopo, Favilli, Silvia, Spaziani, Gaia, Passantino, Silvia, Procopio, Elena, Morrone, Amelia, Donati, Maria Alice

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.05 MB

2020

12

SARS-CoV-2 infection in a patient with propionic acidemia

Caciotti, Anna, Procopio, Elena, Pochiero, Francesca, Falliano, Silvia, Indolfi, Giuseppe, Donati, Maria Alice, Ferri, Lorenzo, Guerrini, Renzo, Morrone, Amelia

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 936 KB

2020

13

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

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:

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

15

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

16

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

Anna Caciotti, Maria Alice Donati, Elena Procopio, Mirella Filocamo, Wim Kleijer, Wim Wuyts, Bettina Blaumeiser, Alessandra d'Azzo, Lisa Simi, Claudio Orlando, Fiona McKenzie, Agata Fiumara, Enrico Za

Journal:

Year:

2007

Language:

english

File:

PDF, 242 KB

english, 2007

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?

Ivana Pela, Daniela Seracini, Maria Alice Donati, Giancarlo Lavoratti, Elisabetta Pasquini, Marco Materassi

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 116 KB

english, 2008

25

Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn

Ivana Pela, Maria Alice Donati, Elena Procopio, Patrizio Fiorini

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

26

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant

Serena Gasperini, Stefano Stagi, Ugo Gasperini, Renzo Guerrini, Giancarlo la Marca, Maria Alice Donati

Journal:

Pediatric Nephrology

Year:

2010

Language:

english

File:

PDF, 61 KB

english, 2010

27

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

28

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

Renzo Manara, Elena Priante, Marco Grimaldi, Lucia Santoro, Luca Astarita, Rita Barone, Daniela Concolino, Maja Di Rocco, Maria Alice Donati, Simona Fecarotta, Anna Ficcadenti, Agata Fiumara, Francesc

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 859 KB

english, 2011

29

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

Caciotti, Anna, Carraresi, Laura, Donati, Maria Alice, Mignani, Renzo, Parini, Rossella, Filocamo, Mirella, Soliani, Fausto, Simi, Lisa, Guerrini, Renzo, Filoni, Camilla

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 252 KB

english, 2008

30

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Minetti, Carlo, Sotgia, Federica, Bruno, Claudio, Scartezzini, Paolo, Broda, Paolo, Bado, Massimo, Masetti, Emiliana, Mazzocco, Michela, Egeo, Aliana, Donati, Maria Alice

Journal:

Nature Genetics

Year:

1998

File:

PDF, 743 KB

1998

31

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

Patrizi, Anna Letizia, Tiziano, Francesco, Zappata, Stefania, Donati, Maria Alice, Neri, Giovanni, Brahe, Christina

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 322 KB

english, 1999

32

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

33

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

34

Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots

Nicoletta Gasparotto, Rosella Tomanin, Anna Chiara Frigo, Gabriela Niizawa, Elisabetta Pasquini, Mariana Blanco, Maria Alice Donati, Joan Keutzer, Franco Zacchello, Maurizio Scarpa

Journal:

Clinica Chimica Acta

Year:

2009

Language:

english

File:

PDF, 322 KB

english, 2009

35

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

36

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

37

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

38

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

Filosto, Massimiliano, Scarpelli, Mauro, Tonin, Paola, Lucchini, Giovanna, Pavan, Fabio, Santus, Francesca, Parini, Rossella, Donati, Maria Alice, Cotelli, Maria Sofia, Vielmi, Valentina, Todeschini,

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 374 KB

english, 2012

39

Becker muscular dystrophy: Clinical, biochemical, and molecular genetic correlations

Serenella Servidai, Giuliana Galluzzi, Enrico Bertini, Giovanni Manfredi, Enzo Ricci, Aldo Broccolini, Massimiliano Mirabella, Antonella Spinazzola, Alice M. Donati, Pietro Tonall

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 127 KB

english, 1994

40

Liver disease and hypophosphatemic rickets: Suspect tyrosinemia TYPE-1

Niccoló Parri, Giuseppe Indolfi, Giovanni Poggi, Mari Alice Donati, Serena Gasperini, Elena Procopio, Massimo Resti

Journal:

Digestive and Liver Disease

Year:

2006

Language:

english

File:

PDF, 74 KB

english, 2006

41

Prospective controlled study of home and hospital therapy of cystic fibrosis pulmonary disease

Mary Alice Donati, Ginny Guenette, Harvey Auerbach

Journal:

The Journal of Pediatrics

Year:

1987

Language:

english

File:

PDF, 521 KB

english, 1987

42

Gauge invariance at work in FDR:H→γγ

Alice M. Donati, Roberto Pittau

Journal:

Journal of High Energy Physics

Year:

2013

Language:

english

File:

PDF, 407 KB

english, 2013

43

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

Catteruccia, Michela, Verrigni, Daniela, Martinelli, Diego, Torraco, Alessandra, Agovino, Teresa, Bonafé, Luisa, D'Amico, Adele, Donati, Maria Alice, Adorisio, Rachele, Santorelli, Filippo Maria, Carr

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 241 KB

english, 2014

44

177 Lu-Dota-octreotate radionuclide therapy of advanced gastrointestinal neuroendocrine tumors: results from a phase II study

Paganelli, Giovanni, Sansovini, Maddalena, Ambrosetti, Alice, Severi, Stefano, Monti, Manuela, Scarpi, Emanuela, Donati, Caterina, Ianniello, Annarita, Matteucci, Federica, Amadori, Dino

Journal:

European Journal of Nuclear Medicine and Molecular Imaging

Year:

2014

Language:

english

File:

PDF, 273 KB

english, 2014

45

FDR, an easier way to NNLO calculations: a two-loop case study

Donati, Alice Maria, Pittau, Roberto

Journal:

The European Physical Journal C

Year:

2014

Language:

english

File:

PDF, 626 KB

english, 2014

46

Short-term survival of hyperammonemic neonates treated with dialysis

Picca, Stefano, Dionisi-Vici, Carlo, Bartuli, Andrea, De Palo, Tommaso, Papadia, Francesco, Montini, Giovanni, Materassi, Marco, Donati, Maria Alice, Verrina, Enrico, Schiaffino, Maria Cristina, Pecor

Journal:

Pediatric Nephrology

Year:

2015

Language:

english

File:

PDF, 438 KB

english, 2015

47

Redefining phenotypes associated with mitochondrial DNA single deletion

Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Donati, Maria Alice, Federico, Antonio, Minetti, Carlo, Moggio, Maurizio, Mongini,

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 334 KB

english, 2015

48

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

Caciotti, Anna, Tonin, Rodolfo, Rigoldi, Miriam, Ferri, Lorenzo, Catarzi, Serena, Cavicchi, Catia, Procopio, Elena, Donati, Maria Alice, Ficcadenti, Anna, Fiumara, Agata, Barone, Rita, Garavelli, Livi

Journal:

Year:

2015

Language:

english

File:

PDF, 1004 KB

english, 2015

49

Development and validation of a nomogram based on clinical factors and standard laboratory tests for prediction of clinically significant liver fibrosis in chronic hepatitis C virus infection

Sagrini, Elisabetta, Ardoino, Ilaria, Marano, Giuseppe, Gianstefani, Alice, Orlandini, Alessandra, Sebastiani, Giada, Donati, Gabriele, Cucchetti, Alessandro, Pelosi, Guido, Ferrari, Carlo, Alberti, A

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2013

Language:

english

File:

PDF, 680 KB

english, 2013

50

Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a Boy with Short-Chain AcylCoA Dehydrogenase Deficiency

Stagi, Stefano, Gasperini, Serena, Manoni, Cristina, Greco, Antonella, Funghini, Silvia, Donati, Alice

Journal:

Hormone Research in Paediatrics

Year:

2010

Language:

english

File:

PDF, 271 KB

english, 2010

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