np-c is a severe, progressive and irreversible neurovisceral disease, which is invariably fatal. np-c is a rare disease, with an estimated minimal incidence of 1/120,000 live births . np-c is caused by mutations in npc1 (~95% of patients) or npc2 genes .defective npc1 and npc2 proteins result in a disruption of lipid metabolism . one of special features of this disorder is heterogeneous manifes...

how to cite this article: ashrafi mr, tavasoli ar. how we can put forward the diagnosis of npc disease: suspicion index. iran j child neu rol. 2015 autumn;9:4(suppl.1): 2-4. pls see pdf.

how to cite this article: tonekaboni sh. approach to npc disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 7. pls see pdf.

how to cite this article: rezayi ar. vitamin e and niemann–pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 23. pls see pdf.

Introduction: Nasopharyngeal carcinoma (NPC) is a rare malignancy in children. Nasal obstruction, otitis media with effusion, pain in the ear, hearing problems, and unusual neck mass are among the signs and symptoms of this malignancy.   Case Report: We report the case of a 13-year-old girl with NPC who later developed acute lymphoblastic leukemia (ALL) through the course of her disease. To our...

Niemann-Pick disease type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in the or genes. Liver NPC1 NPC2 disease is also a common feature of NPC that can present as cholestatic jaundice in the neonatal period. Liver enzymes can remain elevated above the normal range in some patients as they age. We recently reported suppression of the P450 detoxificati...

Niemann-Pick C disease (NPC) is an autosomal recessive neurodegenerative disorder caused by the abnormal function of NPC1 or NPC2 proteins, leading to an accumulation of unesterified cholesterol and glycosphingolipids (GSLs) in the lysosomes. The mechanisms underlying the pathophysiology in NPC disease are not clear. Oxidative damage is implicated in the pathophysiology of different neurologica...

Introduction Niemann-Pick Type C (NPC) disease is a rare autosomal recessive neurodegenerative disease which involves impaired transport of intracellular lipids and accumulation of unesterified cholesterol in lysosomes and late endosomes in cells throughout the body [1]. NPC disease symptoms, including progressive ataxia, developmental dystonia, and dementia, often appear in the first decade of...

BACKGROUND Niemann-Pick disease, type C (NPC), is a lipid storage disease that may present at any age from fetal life to the seventh decade. Its protean manifestations include hepatic and pulmonary failure, as well as a range of progressive neuropsychiatric phenotypes. Late onset disease has been increasingly recognized as the biochemical diagnosis of NPC has been more widely applied. REVIEW ...

Niemann-Pick type C (NPC) disease is a neurovisceral atypical lipid storage disorder involving the accumulation of cholesterol and other lipids in the late endocytic pathway. The pathogenic mechanism that links the accumulation of intracellular cholesterol with cell death in NPC disease in both the CNS and the liver is currently unknown. Oxidative stress has been observed in the livers and brai...