Wilson Disease
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
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Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Niemann-Pick Disease Type C: Two Cases and an Update
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990
Ocular Complications of Tangier Disease
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
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