Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
An 11-year-old girl with focal seizures, fevers, and unilateral, enhancing cortical lesions
Neurol 95:e3153-e3159, Russ, J.B.,et al, 2020
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Multiple Sclerosis in Children Under 6 Years of Age
Neurol 53:478-484, Ruggieri,M.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Cat Scratch Disease, Acute Encephalopathy & Other Neurologic Manifestations
Am J Dis Child 145:98-101, Carithers,H.A.&Margileth,A.M., 1991
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Unpacking the CNS Manifestations of Epstein-Barr Virus:An Imaging Perspective
AJNR 44:1002-1008, Soni,N.,et al, 2023
Distinctive Imaging in a Paucisymptomatic Child with Leukodystrophy
Neruol 91:e1368-e1369, Sharawat, I.K.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
NEJM 377:1648-1656, Blumcke, I.,et al, 2017
Ethosuximide, Valproic Acid, and Lamotrigine in Childhood Absence Epilepsy
NEJM 362:790-799, Glauser,T.A.,et al, 2010
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
Ictal Cardiorespiratory Arrest in Panayiotopoulos Syndrome
Neurol 64:1816-1817, Verrotti,A.,et al, 2005
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Visual Impairment in Children with Epilepsy Treated with Vigabatrin
Ann Neurol 48:60-64, Gross-Tsur,V. et al, 2000
Subcortical Heterotopia:A Distinct Clinicoradiologic Entity
AJNR 17:1315-1322, Barkovich,A.J., 1996
Acute Isoniazide Neurotoxicity in an Urban Hospital
Pediatrics 94:700-704, Shah,B.R.,et al, 1995
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Clinical Uses of Intravenous Immunoglobulins
Ann Int Med 112:278-292, Berkman,S.A.,et al, 1990