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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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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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A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
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The Floppy Infant: Evaluation of Hypotonia
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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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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The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
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Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
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Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
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Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
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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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Pes Cavus and Neuropathy
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
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