作者：Catia Cavicchi (1)
Maria Alice Donati (2)
Rossella Parini (3)
Miriam Rigoldi (3)
Mauro Bernardi (4)
Francesca Orfei (5)
Nicol貌 Gentiloni Silveri (6)
Aniello Colasante (7)
Silvia Funghini (8)
Serena Catarzi (1)
Elisabetta Pasquini (2)
Giancarlo la Marca (8) (9)
Sean David Mooney (10)
Renzo Guerrini (11) (9)
Amelia Morrone (1) (9)

1. Molecular and Cell Biology Laboratory ; Pediatric Neurology Unit and Laboratories ; Neuroscience Department ; A. Meyer Children鈥檚 Hospital ; Viale Pieraccini 24 ; 50139 ; Florence ; Italy
2. Metabolic and Muscular Unit ; A. Meyer Children鈥檚 Hospital ; Florence ; Italy
3. Rare Metabolic Diseases Unit ; Department of Pediatrics ; Fondazione MBBM ; San Gerardo Hospital ; Monza ; Italy
4. Department of Medical and Surgical Sciences ; University of Bologna ; Bologna ; Italy
5. Intensive Care Unit ; S. Maria della Misericordia Hospital ; Perugia ; Italy
6. Department of Emergency Medicine ; School of Medicine ; Catholic University of the Sacred Heart ; Rome ; Italy
7. Intensive Care Unit ; ASL Salerno 2 ; Eboli Hospital ; Eboli ; Italy
8. Newborn Screening Biochemistry and Pharmacology Laboratory ; Pediatric Neurology Unit and Laboratories ; Neuroscience Department ; A. Meyer Children鈥檚 Hospital ; Florence ; Italy
9. Department of Neurosciences ; Psychology ; Pharmacology and Child Health ; University of Florence ; Florence ; Italy
10. Buck Institute for Research on Aging ; Novato ; CA ; USA
11. Pediatric Neurology Unit and Laboratories ; Neuroscience Department ; A. Meyer Children鈥檚 Hospital ; Florence ; Italy

关键词：Urea Cycle Disorders (UCD) ; Ornithine transcarbamylase deficiency (OTCD) ; Late onset OTCD ; OTC gene mutations ; Hyperammonemic encephalopathy ; Environmental triggering factors for hyperammonemia

刊名：Orphanet Journal of Rare Diseases

出版年：2014

作者：Sarah C Grünert (1) (2)
Martin Stucki (1) (3)
Raphael J Morscher (1)
Terttu Suormala (1) (4)
Celine Bürer (1)
Patricie Burda (1)
Ernst Christensen (5)
Can Ficicioglu (6)
Jürgen Herwig (7)
Stefan K?lker (8)
Dorothea M?slinger (9)
Elisabetta Pasquini (10)
René Santer (11)
K Otfried Schwab (2)
Bridget Wilcken (12)
Brian Fowler (1) (4)
Wyatt W Yue (13)
Matthias R Baumgartner (1) (3)

关键词：3 ; Methylcrotonyl ; CoA carboxylase ; MCCC1 ; MCCC2 ; Biotin ; Inborn error ; Organic aciduria ; Newborn screening

刊名：Orphanet Journal of Rare Diseases

出版年：2012

作者： Ivana Pela ; Daniela Seracini ; Maria Alice Donati ; Giancarlo Lavoratti ; Elisabetta Pasquini and Marco Materassi

关键词：Hyperammonemia ; Peritoneal dialysis ; Urea cycle ; Organic acidurias ; Hemodialysis

刊名：Pediatric Nephrology

出版年：2008

作者：Ivana Pela ; Daniela Seracini ; Maria Alice Donati ; Giancarlo Lavoratti ; Elisabetta Pasquini and Marco Materassi

关键词：Hyperammonemia ; Peritoneal dialysis ; Urea cycle ; Organic acidurias ; Hemodialysis

刊名：Pediatric Nephrology

出版年：2008

作者： Maria Alice Donati ; Sabrina Malvagia ; Elisabetta Pasquini ; Amelia Morrone ; Giancarlo La Marca ; Barbara Garavaglia ; Daniela Toniolo and Enrico Zammarchi

刊名：Journal of Inherited Metabolic Disease

出版年：2006

作者：Maria Alice Donati ; Sabrina Malvagia ; Elisabetta Pasquini ; Amelia Morrone ; Giancarlo La Marca ; Barbara Garavaglia ; Daniela Toniolo and Enrico Zammarchi

刊名：Journal of Inherited Metabolic Disease

出版年：2006