Volume 16, Number 53 (mordad 2006)                   J Mazandaran Univ Med Sci 2006, 16(53): 112-118 | Back to browse issues page


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Mojtahedzadeh F, Qasemi M. Niemann Pick type A, a case report. J Mazandaran Univ Med Sci. 2006; 16 (53) :112-118
URL: http://jmums.mazums.ac.ir/article-1-915-en.html

Abstract:   (11576 Views)
Niemann Pick type A is a very rare hereditary disease with an incidence 1 in 20000-40000 live birth, which is calassified as a shingolipidoses. The disease is marked by the abnormal accumulation of sphingomyelin in most tissues, secondary to sphingomylinase deficiency. The most clinical manifestations are: Splenohepatomegaly–cherry red maculae-neuropathologic findings . This is a case report of an infant with clinical manifestation of Niemann Pick disease type A.
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Type of Study: Research(Original) |

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