Results 21 to 30 of about 48,564 (222)

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Journal of Medical Case Reports, 2022
Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and ...
Mohammad Barzegar, Fatemeh Valaee, Shadi Ghoreishizadeh   +2 more
doaj   +1 more source

Niemann-Pick Disease: Seven Questions about it

Вопросы современной педиатрии, 2023
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes.
Nato D. Vashakmadze, Nataliya V. Zhurkova   +1 more
doaj   +1 more source

Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States.

Molecular Genetics and Metabolism, 2021
BACKGROUND Niemann-Pick Disease Type C (NPC) is an ultra-rare progressive neurodegenerative disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes that lead to premature death, with most individuals dying between 10 and 25 years of age.
B. Burton, A. Ellis, Blair Orr, Shilpa Chatlani, Kwangchae Yoon, J. Shoaff, Dan Gallo   +6 more
semanticscholar   +1 more source

The lysosome: A potential juncture between SARS‐CoV‐2 infectivity and Niemann‐Pick disease type C, with therapeutic implications

The FASEB Journal, 2020
Drug repurposing is potentially the fastest available option in the race to identify safe and efficacious drugs that can be used to prevent and/or treat COVID‐19.
Rami A Ballout, D. Sviridov, M. Bukrinsky, A. Remaley   +3 more
semanticscholar   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis

European Journal of Histochemistry, 2009
We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells.
P. Sharma, R. Kar, S. Dutta, H.P. Pati, R. Saxena   +4 more
doaj   +3 more sources

Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]

, 2019
In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon, Lee, Chia-Fang, Li, Wenjing, Sun, Hong, Xiong, Xiahui, Yu, Jiekai, Zhang, Hul, Zhu, Linyu   +7 more
core   +2 more sources

Double-Lung Transplantation in a Patient with Pulmonary Type B Niemann-Pick Disease: A Valid Treatment Option

Case Reports in Transplantation, 2022
Niemann-Pick disease is a rare autosomal recessive disease characterized by an abnormal intracellular lipid accumulation. Type B is later in onset and a less severe form of the disease, so affected people may survive in adulthood.
Víctor Manuel Mora, Joy Selene Osorio, David Iturbe, Sandra Tello, Yedra Guzmán, Laura Sánchez, José Javier Gómez, José Manuel Cifrián   +7 more
doaj   +1 more source

Linear cyclodextrin polymer prodrugs as novel yherapeutics for Niemann-Pick type C1 disorder [PDF]

, 2018
Niemann-Pick Type C1 disorder (NPC) is a rare lysosomal storage disease characterized by the accumulation of cholesterol in lysosomes. NPC has no FDA approved treatments yet, however 2-hydroxypropyl-β-cyclodextrin (HPβCD) has shown efficacy for treating ...
Aditya Kulkarni, Alberto Macone, Atul Dolas, Jessica Dragotto, Maria Teresa Fiorenza, Paola Caporali, Ramesh Jayaraman, Sandeep Goyal, Soniya Johny   +8 more
core   +1 more source

Consensus clinical management guidelines for Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2018
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the ...
T. Geberhiwot, A. Moro, A. Dardis, U. Ramaswami, S. Sirrs, M. P. Marfa, M. Vanier, M. Walterfang, Shaun Bolton, C. Dawson, B. Héron, Miriam Stampfer, J. Imrie, C. Hendriksz, P. Gissen, E. Crushell, M. Coll, Y. Nadjar, H. Klünemann, E. Mengel, M. Hřebíček, S. Jones, D. Ory, B. Bembi, M. Patterson   +24 more
semanticscholar   +1 more source