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1. Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
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
刊名：Orphanet Journal of Rare Diseases
出版年：2014
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