Niemann disease --> Niemann-Pick disease
clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised.
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... Syndrome * Alagille Syndrome * Albinism/Hypopigmentation * Alexander Disease * Alpers' Disease * Alpha-1 Antitrypsin Deficiency * Alzheimer's ... Inflammatory Disease * Neural Tube Defects * Neurofibromatosis * Niemann-Pick Disease * Noonan Syndrome * Optic Atrophy * Osteogenesis Imperfecta ...
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