A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Clinicopath Conf, Human Granulocytic Ehrlichiosis
NEJM 352:1358-1364, Case 10-2005, 2005
Clinicopath Conf,Hepatitis C,Type II Cryoglobulinemia,Vasculitis,B-cell Lymphoma,Mononeuritis Multiplex,Case 3-1999
NEJM 340:300-307, , 1999
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
Progressive Neuropathy & Recurrent Myoglobinuria in a Child with Long-chain 3-Hydroxyacylcoenzyme A Dehydrogenase Defic
J Pediatr 118:744-746, Dionisi,C.,et al, 1991
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977