Clinicopath Conf., Atypical Hemolytic-Uremic Syndrome
NEJM 361:389-400, Case 23-2009, 2009
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Wilson Disease Presenting with Catatonia
Neurol 96:e2781-e2782, Patel, R.A. & Bailey, M., 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Diagnosis and New Treatment in Muscle Channelopathies
JNNP 80:360-365, Meola,G.,et al, 2009
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
Stroke 35:1790-1794, Cantu,C.,et al, 2004
Hyperhomocysteinemia in Cerebral Vein Thrombosis
Blood 102:1363-1366, Martinelli,I.,et al, 2003
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
A News Locus for Hemiplegic Migraine Maps to Chromosome 1q31
Neurol 49:1231-1238, 11931997., Gardner,K.,et al, 1997