, 2015 Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC ...
Christopher L. Adamson +9 more
core +1 more source
Hepatic and Pulmonary Involvement in an Adult Female Affected by Type B Niemann-Pick Disease
Eurasian Journal of Medicine, 2019 We report a case of type B Niemann-Pick disease in a 39-year-old female patient. She presented with hepatomegaly, splenomegaly and moderate mental retardation without other signs or symptoms.
Fatih Albayrak +6 more
doaj
Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient
Вопросы современной педиатрииBackground. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova +7 more
doaj +1 more source
Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]
, 2017 Austin, Christopher P. +8 more
core +2 more sources
Assessing the effect of statins in lowering the risk of stroke and preventing cerebral ischemia in patients with hypercholesterolemia [PDF]
, 2017 Numerous analyses have explored the role of statins in reducing stroke incidence, reducing cerebral ischemia in hypercholesterolemic patients, and preventing ischemic stroke.
AlSulaiman, Wafa
core
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 +8 more
core
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 +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 +6 more
doaj
Modulation of glutamate metabolism in Niemann-pick disease type C1 mice. [PDF]
Mol Genet Metab RepCougnoux A +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