作者：Raffaella Messina (1)
Maria Giuseppina Cefalo (2)
Domitilla Elena Secco (2)
Simona Cappelletti (3)
Erika Rebessi (1)
Andrea Carai (1)
Giovanna Stefania Colafati (4)
Francesca Diomedi Camassei (5)
Antonella Cacchione (2)
Carlo Efisio Marras (1)
Angela Mastronuzzi (2)

1. Department of Neuroscience and Neurorehabilitation ; Neurosurgery Unit ; Bambino Ges霉 Children鈥檚 Hospital ; IRCCS ; Piazza Sant鈥?Onofrio 4 ; 00165 ; Rome ; Italy
2. Department of Hematology/Oncology and Stem Cell Transplantation ; Bambino Ges霉 Children鈥檚 Hospital ; IRCCS ; Piazza Sant鈥橭nofrio 4 ; 00165 ; Rome ; Italy
3. Department of Neurosciences ; Neurology Unit ; Bambino Ges霉 Children鈥檚 Hospital ; IRCCS ; Piazza Sant鈥橭nofrio 4 ; 00165 ; Rome ; Italy
4. Department of Radiology/Neuroradiology Unit ; Bambino Ges霉 Children鈥檚 Hospital ; IRCCS ; Piazza Sant鈥?Onofrio 4 ; 00165 ; Rome ; Italy
5. Department of Anatomical Pathology ; Bambino Ges霉 Children鈥檚 Hospital ; IRCCS ; Piazza Sant鈥?Onofrio 4 ; 00165 ; Rome ; Italy

关键词：Extraventricular neurocytoma ; Pediatric brain tumors ; Behavioral disorder ; Attention deficit/hyperactivity disorders

刊名：BMC Neurology

出版年：2014

作者：Davide Tonduti (1) (2)
Imen Dorboz (1)
Apolline Imbard (3)
Abdelhamid Slama (4)
Audrey Boutron (4)
Samia Pichard (5)
Monique Elmaleh (6)
Louis Vall茅e (7)
Jean Fran莽ois Benoist (3)
Hel茅ne Ogier (5)
Odile Boespflug-Tanguy (1) (5)

1. Paris Diderot University 鈥?Sorbonne Paris Cit茅 ; Inserm U1141 ; DHU PROTECT ; Robert Debr茅 Hospital ; Paris ; France
2. Department of Brain and Behavioral Sciences ; Unit of Child Neurology and Psychiatry ; University of Pavia ; Pavia ; Italy
3. Hormonology and Biochemistry Departement ; Robert Debr茅 Hospital ; AP-HP ; Paris ; France
4. Department of Biochemistry ; Bicetre Hospital ; AP-HP ; Le Kremlin Bicetre ; France
5. Departement of Neuropediatrics and Metabolic Diseases ; Robert Debr茅 Hospital ; AP-HP ; 48 ; Boulevard S茅rurier ; 75019 ; Paris ; France
6. Departement of Pediatric Radiology ; Robert Debr茅 Hospital ; AP-HP ; Paris ; France
7. Department of Neuropediatrics ; CHRU ; University Lille North ; Lille ; France

关键词：Irons sulfur clusters ; Leukoencephalopathy ; Spastic paraplegia ; NFU1

刊名：Orphanet Journal of Rare Diseases

出版年：2015

作者：Puneet Jain (1) (6)
Suvasini Sharma (1)
Nadia Bahi-Buisson (2) (3) (4)
Ch茅rif Beldjord (5)
Satinder Aneja (1)

1. Division of Pediatric Neurology ; Department of Pediatrics ; Lady Hardinge Medical College and Associated Kalawati Saran Children鈥檚 Hospital ; New Delhi ; India
6. Division of Pediatric Neurology ; Department of Pediatrics ; BLK Super Speciality Hospital ; Pusa Road ; New Delhi ; 110005 ; India
2. Institut Imagine ; Universit茅 Paris Descartes - Sorbonne Paris Cit茅s ; Paris ; France
3. Embryology and Genetics of Congenital Malformations ; Institut Imagine-Inserm UMR-1163 ; Paris ; France
4. Department of Pediatric Neurology ; Necker Enfants Malades University Hospital ; AP-HP ; Paris ; France
5. Service de Biologie Mol茅culaire et Genetique ; Pavillon Cassini AP-HP ; H么pital Cochin ; Paris ; France

刊名：The Indian Journal of Pediatrics

出版年：2015

作者：Puneet Jain (1)
Suvasini Sharma (2)
Severine Drunat (3)
Simon Samaan (3)
Srishti Goel (4)
Praveen Gulati (5)
Satinder Aneja (6)

1. Division of Pediatric Neurology ; Department of Pediatrics ; BLK Super Speciality Hospital ; Pusa Road ; New Delhi ; 110005 ; India
2. Division of Pediatric Neurology ; Department of Pediatrics ; Lady Hardinge Medical College and Associated Kalawati Saran Children鈥檚 Hospital ; New Delhi ; India
3. Department of Medical Genetics ; APHP- Robert Debr茅 University Hospital ; and Paris VII Denis Diderot University ; Paris ; France
4. Department of Pediatrics ; Lady Hardinge Medical College and Associated Kalawati Saran Children鈥檚 Hospital ; New Delhi ; India
5. Department of Radiodiagnosis ; Dr Gulati MRI Institute ; New Delhi ; India
6. Division of Pediatric Neurology and Department of Pediatrics ; Lady Hardinge Medical College and Associated Kalawati Saran Children鈥檚 Hospital ; New Delhi ; India

刊名：The Indian Journal of Pediatrics

出版年：2015

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