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SpringerLink电子期刊(1)
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SpringerLink电子期刊
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命中:
1
条,耗时:0.0129923 秒
在所有数据库中总计命中:
1
条
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
Pediatric
s
;
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
1
按检索点细分(1)
作者(1)
按出版年细分(1)
2014年(1)
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