Statin-Associated Myopathy
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Spontaneous "Second Wind" and Glucose-Induced Second "Second Wind" in McArdle Disease
Arch Neurol 59:1395-1402, Haller,R.G.&Vissing,J., 2002
AAC/AHA/NHLBI Clinical Advisory on the Use and Safety of Statins
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Statin-Associated Myopathy With Normal Creatine Kinase Levels
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MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001
Enzyme Replacement Therapy in Fabry Disease
JAMA 285:2743-2749, Schiffmann,R.,et al, 2001
Acute Compartment Syndrome After Forearm Ischemic Work Test in a Patient with McArdle's Disease
Neurol 56:1779-1780, Lindner,A.,et al, 2001
Safety of HMG-CoA Reductase Inhibitors: Focus on Atorvastatin
Cardiovasc Drugs Ther 15:211-218, Bernini,F.,et al, 2001
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
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
A New Metabolite Contributing to N-Acetyl Signal in 1H MRS of the Brain in Salla Disease
Neurol 52:1668-1672, Varho,T.,et al, 1999
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Mucolipidosis Type IV; Characteristic MRI Findings
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Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
AJNR 19:1628-1630, Chen,C-Y.,et al, 1998
Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
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JNNP 55:407-408, Felice,K.J.,et al, 1992
Evaluation of Cerebral Biopsies for the Diagnosis of Dementia
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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NEurologic Complications of Nonneuronopathic Gaucher's Disease
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Late Onset Globoid Cell Leukodystrophy
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Gemfibrozil-Induced Myopathy
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Cholesterol-Lowering Agent Myopathy (CLAM)
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Fucosidosis Revisited:A Review of 77 Patients
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Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
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Myopathy and Rhabdomyolysis Associated with Lovastatin-Gemfibrozil Combination Therapy
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Anderson-Fabry Disease
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Adult Phosphorylase b Kinase Deficiency
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Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
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Neurologic Complications in Long-Standing Nephropathic Cystinosis
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McArdle's Disease:Biochemical and Molecular Genetic Studies
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Amaurotic Family Idiocy
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
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Nervous System Involvement in Fabry's Disease:Clinicopath & Biochemical Correlation
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Retinitis Pigmentosa
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