Volume 16, Issue 53 (August 2006)
J Mazandaran Univ Med Sci 2006, 16(53): 112-118 |
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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
URL: http://jmums.mazums.ac.ir/article-1-915-en.html
Abstract: (18152 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.
Type of Study: Research(Original) |
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