Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991
Adult Sphingomyelinase Deficiency:Report of 2 Patients who Initially Presented with Psychiatric Disorders
Neurol 40:132-136, Dubois,G.,et al, 1990
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Adrenoleukodystrophy:Elevated C26 Fatty Acid in Cultured Skin Fibroblasts & Correlation with Disease Expression
Neurol 32:540-2, O'Neill,B.P.,et al, 1982
Familial X-linked Addison Dise. as an Expression of Adrenoleukodystr. :C26 Fatty Acid in Cult. Skin Fibroblasts
Neurol 32:543-547, O'Neill,B.P.,et al, 1982
Adrenoleukodystrophy:Elevated C26 Fatty Acid in Cultured Skin Fibroblasts
Ann Neurol 7:542-549, Moser,H.W.,et al, 1980