Results 131 to 140 of about 48,564 (222)

Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation [PDF]

, 1986
A 7-year-old girl with progressive ataxia, spasticity, supranuclear ophthalmoplegia, and sea-blue histiocytes in her bone marrow underwent orthotopic liver transplantation for hepatocellular carcinoma.
Bergman, I, Gartner, JC, Iwatsuki, S, Jaffe, R, Malatack, JJ, Shaw, BW, Starzl, TE, Watkins, JB, Zitelli, BJ   +8 more
core  

Bone marrow involvement of a patient with Niemann-Pick disease concomitant with Kartagener’s syndrome: Report of a rare case

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Niemann-Pick disease is a rare lipid storage disorder with autosomal recessive inheritance, which is characterized by accumulation of sphingomyelin and other sphingolipids in macrophages. In most cases, macrophage lipids show a non-spesific, ?ntense blue
Muzaffer Keklik, serdar sivgin, suleyman baldane, afra yildirim, olgun kontas, fatih kardas, cigdem pala, ali unal   +7 more
doaj  

Lipidosis with sea-blue histiocytes. Report of two siblings with lung involvement

The Turkish Journal of Pediatrics, 1994
Two siblings, an eight-year-old girl and a three-year-old boy with lipid storage disease, most likely non-neuropathic Niemann-Pick disease (NPD) with sea-blue histiocytes, are presented.
S Göğüş, A Göçmen, N Koçak, N Kiper, T Küçükali, A Yüce, N Büyükpamukçu   +6 more
doaj  

Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention

Human Molecular Genetics, 2018
A. Cougnoux, Rebecca A. Drummond, Amanda L. Collar, J. Iben, Alexander Salman, Harrison Westgarth, C. Wassif, N. Cawley, N. Farhat, K. Ozato, M. Lionakis, F. Porter   +11 more
semanticscholar   +1 more source

Modulation of glutamate metabolism in Niemann-pick disease type C1 mice. [PDF]

Mol Genet Metab Rep
Cougnoux A, Alvarez CS, Maria AG, Hernandez E, Cawley NX, Davidson CD, Porter FD.   +6 more
europepmc   +1 more source

Intracellular cholesterol transport proteins: roles in health and disease [PDF]

, 2016
Graham, Annette, Soffientini, Ugo
core   +1 more source

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice. [PDF]

Life Sci Alliance
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Gembic SR, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ.   +11 more
europepmc   +1 more source

Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann-Pick Disease Type C. [PDF]

J Extracell Biol
Hawthorne SCB, Sandau US, McFarland TJ, Berry-Kravis E, Saugstad JA.   +4 more
europepmc   +1 more source

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1. [PDF]

Mol Genet Metab
Agrawal N, Bianconi S, Jaeger R, Farhat NY, Alexander DM, Sinaii N, Hadigan C, Berry-Kravis E, Porter FD.   +8 more
europepmc   +1 more source

Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]

Cureus
Ghonaimat RA, Shneikat A, Foudeh BM, Alsamhouri I.   +3 more
europepmc   +1 more source