Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980
Congenital Ocular Motor Apraxia
Arch Neurol 36:29-31, Orrison,W.W.,et al, 1979