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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
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Adult Phosphorylase b Kinase Deficiency
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Amaurotic Family Idiocy
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Phosphorylase Deficiency
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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Chronic Hexosaminidase A & B Deficiency
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