Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
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Bright Tongue Sign in Pompe Disease
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A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
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"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
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The Floppy Infant: Evaluation of Hypotonia
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Glycogen-Storage Disease Type II
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The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
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The Ultrastructure of the Sural Nerve in Pompe's Disease
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Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
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Spontaneous "Second Wind" and Glucose-Induced Second "Second Wind" in McArdle Disease
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Acute Compartment Syndrome After Forearm Ischemic Work Test in a Patient with McArdle's Disease
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Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
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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
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Adult Phosphorylase b Kinase Deficiency
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McArdle's Disease:Biochemical and Molecular Genetic Studies
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Fatal Infantile Form of Muscle Phosphorylase Deficiency
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Progressive Paresis of Vertical Gaze in Lipid Storage Disease
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
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A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
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Spinal Cord Involvement in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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A Teenager with Persistent Headache
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Pes Cavus and Neuropathy
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Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
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Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
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Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Progressive Neuropsychiatric Symptoms and Motor Impairment
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
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Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011