Wilson Disease
NIDDK Oct2018, , 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
When MRI is a Clue in Episodic Ataxia
Neurol 93:e2074-e2075, Dhawan, S.R.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Clinicopath Conf., Atypical Hemolytic-Uremic Syndrome
NEJM 361:389-400, Case 23-2009, 2009
Neuroblastoma
Lancet 369:2106-2120, Maris,J.M.,et al, 2007
Clinicopath Conf., Pheochromocytoma
NEJM 352:2223-2231, Case 16-2005, 2005
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Uses and Technique of Pediatric Lumbar Puncture
Am J Dis Child 146:1160-1165, Ward,E.&Gushurst,C.A., 1992
Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966
Seizure Disorder
Lead Poisoning, Case Study-Rocom Laboratories., , 1850