Results 11 to 20 of about 294 (130)

Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

Frontiers in Genetics, 2022
Niemann–Pick disease is a relatively common lysosomal storage disease. Cholestatic liver disease is a typical clinical phenotype of Niemann–Pick disease in infancy. The diagnosis is traditionally based on Niemann–Pick cells in bone marrow smears or liver
Fan Chen, Shan Guo, Xuesong Li, Shengxuan Liu, Li Wang, Victor Wei Zhang, Hui Xu, Zhihua Huang, Yanqin Ying, Sainan Shu   +9 more
doaj   +1 more source

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Scientific Reports, 2021
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.
Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob   +7 more
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Niemann-Pick disease

Turkish Journal of Hematology, 2011
doi:10.5152/tjh.2011.15 The peripheral blood smear is an easy, inexpensive, and very useful diagnostic method. Although some think that it has lost its importance following the development of new automated complete blood counts, the peripheral blood smear should remain a primary diagnostic tool for clinicians, especially pediatricians. Peripheral blood
Celkan, Tiraje, Karaman, Serap
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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. [PDF]

PLoS ONE, 2017
The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in ...
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan   +12 more
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A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy

Indian Journal of Pathology and Microbiology, 2020
Sea-blue histiocytes in bone marrow can be associated with a number of conditions and have indeed often been reported in Niemann-Pick diseases, mostly in Niemann-Pick type B, but also Niemann-Pick type C.
Li Wang, Jingmin Sun, Xiaoyan Xu, Longxiang Tao, De Wu, Ying Zhang   +5 more
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Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease, a Case Report

Canadian Journal of Kidney Health and Disease, 2022
Rationale: Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease (LSD) caused by mutations in NPC1 or NPC2 genes. Mutations result in abnormal cholesterol trafficking, which is manifested by abnormal cholesterol and ...
Pairach Pintavorn, Stephanie Munie, Sweta Munagapati   +2 more
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Niemann - Pick disease associated with hemophagocytic syndrome

Turkish Journal of Hematology, 2010
Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations.
Serap Karaman, Nafiye Urgancı, Günsel Kutluk, Feyzullah Çetinkaya   +3 more
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Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

Orphanet Journal of Rare Diseases, 2018
Background Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization.
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, Toni Mathieson   +8 more
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The Influence of a Conjugated Pneumococcal Vaccination on Plasma Antibody Levels against Oxidized Low-Density Lipoprotein in Metabolic Disease Patients: A Single-Arm Pilot Clinical Trial

Antioxidants, 2021
As a mediator between lipid metabolism dysfunction, oxidative stress and inflammation, oxidized low-density lipoprotein (oxLDL) is a promising therapeutical target in a wide range of metabolic diseases.
Ronit Shiri-Sverdlov, Inês Magro dos Reis, Yvonne Oligschlaeger, Tim Hendrikx, Dennis M. Meesters, Annick Vanclooster, Nele Vanhoutvin, Ger H. Koek, Marit Westerterp, Christoph J. Binder, David Cassiman, Tom Houben   +11 more
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Stem Cells in Niemann‐Pick Disease [PDF]

Disease Markers, 2008
Neural stem cells are multi‐potent and able to self renew to maintain its character throughout the life. Loss of self renewal ability of stem cells prevents recovery or replacement of cells damaged by disease with new cells. The Niemann‐Pick type C1 (NPC1) disease is one of the neurodegenerative diseases, caused by a mutation of NPC1 gene which affects
Kim, Sun-Jung, Park, Joon-Suk, Kang, Kyung-Sun   +2 more
openaire   +2 more sources