The Patient Has the Diagnosis
Lancet 378:1436, Jubany,L.I.,et al, 2010
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
MELAS
MedLink.com, August, Klopstock, T., 2012
Clinicopath Conf., Severe Microangiopathy of Diabetic Vasculopathy with Multiple Cerebral Infarcts
NEJM 357:164-173, Case Study 21-2007, 2007
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinicopath Conf., Colchicine Myoneuropathy
NEJM 349:1656-1663, Case 33-2003, 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Clinicopath Conf,Hepatitis C,Type II Cryoglobulinemia,Vasculitis,B-cell Lymphoma,Mononeuritis Multiplex,Case 3-1999
NEJM 340:300-307, , 1999
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Recurrent Strokes in a 34-Year-Old Man
Lancet 350:560, Chinnery,P.F.,et al, 1997
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
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
Mitochondrial Dysfunction in Multiple Symmetrical Lipomatosis
Ann Neurol 29:566-569, Berkovic,S.F.,et al, 1991
Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Rhabdomyolysis During Treatment With Epsilon-Aminocaproic Acid
Arch Neurol 37:187-188, Britt,C.W.,et al, 1980
Myopathy Due to Epsilon Amino-Caproic Acid
Muscle & Nerve 3:202-206980., Kennard,C.,et al, 1980
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977
Central Nervous System Manifestations of Periarteritis Nodosa
Neurol 15:114, Ford,R.G.,et al, 1965