Fluorescence microscopic examination of filipin-stained cultured skin fibroblasts derived from two brothers with group D Niemann-Pick disease revealed abnormal storage of low density lipoprotein (LDL)-derived cholesterol. LDL stimulation of intracellular cholesteryl ester synthesis was severely compromised in the Niemann-Pick D fibroblasts, as it also was in fibroblasts obtained from Niemann-Pi...

* This investigation was supported in part by a grant from the National Institutes of Health, U.S. Public Health Service. t Contribution no. 3056. I Platt, A., and C. Niemann, these PROCEEDINGS, 50, 817 (1963). 2 Peterson, R. L., K. W. Hubele, and C. Niemann, Biochemistry, 2, 942 (1963). 3Hein, G. E., and C. Niemann, J. An. Chem. Soc., 84, 4487, 4495 (1962). 4Applewhite, T. H., R. B. Martin, an...

how to cite this article: ahmadabadi f. niemann –pick c disease: is it a misnomenclature. iran j child neurol. 2015 autumn;9:4(suppl.1): 27. pls see pdf.

BACKGROUND Niemann-Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann-Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over v...

...................................................................................................................... 9 INTRODUCTION........................................................................................................... 11 Dissertation Format ....................................................................................................... 15 PRESENT STUDY................

Niemann-Pick Diseases (NPD) is lysosomal storage diseases caused by Acid Sphingo Myelinase (ASM) deficiency, which catalyzes the hydrolysis of Myelin

nieman-pick disease type c is a rare, autosomal recessive, neurometabolic disorder associated with the accumulation of unesterified cholesterol in lysosomes and late endosomes. because of multiple organ involvement and wide range of clinical manifestations, these patients will demand multiple diagnostic and therapeutic procedures requiring anesthesia. sincepathogenesis of this disease is still ...

Niemann-Pick group of diseases are rare lysosomal storage disorders. The clinical phenotype is variable. We report a child who first time presented with tremors of tongue and tremors of one side of the body. On examination child had hemiparesis and hepatosplenomegaly. Bone marrow examination shows storage cells suggestive of Niemann-Pick cells and enzyme assay confirmed the diagnosis.

An Ashkenazi Jewish woman had a child with Niemann-Pick disease in her first marriage. She subsequently remarried a man who was also heterozygous for the condition and conceived twins. Prenatal diagnostic tests were performed and one twin was shown to be homozygous and the other heterozygous for Niemann-Pick disease. The problems of prenatal diagnosis and counselling in twin pregnancies are dis...