Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
Lentiform Fork Sign in Metabolic Acidosis
Ann Neurol 89:188-189, Kumar, N. & Kumar, D., 2021
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
Neurol 90:518-519, Peddawad, D.,et al, 2018
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Neonatal Epileptic Encephalopathy
Lancet 361:1614, Clayton,P.T.,et al, 2003
Rhabdomyolysis and Hypoxia Associated with Prolonged Propofol Infusion in Children
Neurol 50:301-303, Hanna,J.P.&Ramundo,M.L., 1998
Clinicopath Conf, Herpes Simplex Encephalitis
Am J Med 93:327-334, Krogstad,D., 1992
Reversal of Prolonged Isoniazid-Induced Coma by Pyridoxine
Arch Int Med 150:1751-1753, Brent,J.,et al, 1990
Hemorrhagic Shock and Encephalopathy:Clinical, Pathologic, and Biochemical Features
J Pediatr 114:194-203, Levin,M.,et al, 1989
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Acute Cocaine Poisoning
Am J Med 75:1061-1064, Jonsson,S.,et al, 1983
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980