juvenile type of niemann-pick type c disease and our study in iranian npc patients

نویسندگان

parvaneh karimzadeh 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran 2.pediatric neurology center of excellence & pediatric neurology department sciences, shahid beheshti university of medical sciences, tehran, iran

چکیده

how to cite this article: karimzadeh p. juvenile type of niemann-pick type c disease and our study in iranian npc patients. iran j child neurol. 201 5 autumn;9:4(suppl.1): 5-6. pls see pdf.

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Niemann-Pick type C disease.

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Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 Mexican patients from different families with juvenile presentation of NPC. Clinical examination, ...

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preinatal types of niemann-pick disease type c

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عنوان ژورنال:
iranian journal of child neurology

جلد ۹، شماره ۴، صفحات ۵-۶

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