Results 81 to 90 of about 21,027 (214)

Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease

Journal of Lipid Research, 1967
This paper describes the purification and some of the properties of an enzyme from human spleen that catalyzes the hydrolysis of sphingomyelin with the formation of ceramide and phosphoryl choline.
Peter B. Schneider, Eugene P. Kennedy
doaj   +1 more source

Miglustat in Niemann-Pick disease type c (NPC)

, 2008
Miglustat in Niemann-Pick disease type c ...
Ed Wraith (15917000), Darleen Vecchio (15917003), Helena Prady (15917006), Marc Patterson (5636096), Larry Abel (13056207)   +4 more
core   +1 more source

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

Journal of Rare Diseases
Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl   +6 more
doaj   +1 more source

The Niemann-Pick disease

, 2017
Адрес за кореспонденция: Доц. д-р Красимир Коев, дм, Катедра по спешна медицина, Медицински университет – София, тел.: 0896291020, e-mail: k00007@abv.bg ***** Address for correspondence: Assoc. Prof.
Коев./Koev, Кр./Kr.
core  

Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells[S]

Journal of Lipid Research, 2019
In specialized cell types, lysosome-related organelles support regulated secretory pathways, whereas in nonspecialized cells, lysosomes can undergo fusion with the plasma membrane in response to a transient rise in cytosolic calcium. Recent evidence also
Fabrizio Vacca, Stefania Vossio, Vincent Mercier, Dimitri Moreau, Shem Johnson, Cameron C. Scott, Jonathan Paz Montoya, Marc Moniatte, Jean Gruenberg   +8 more
doaj   +1 more source

A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +1 more source

Macular Cherry Red Spots in Niemann-Pick disease

, 1968
Macular cherry red spots in Niemann-Pick disease. Same patient as R2A2b. Anatomy: Retina. Pathology: Retinal ganglion cell accumulation of lipid. Disease/Diagnosis: Niemann-Pick disease.
William F. Hoyt, MD
core  

Doença de Niemann Pick tipo B: relato de caso [PDF]

Introduction: Niemann-Pick Disease (NPD) is a rare genetic condition, an autosomal recessive disorder, that can be identified by the acid sphingomyelinase deficiency, which leads to the buildup of sphingomyelin on lysosomes.
Amoedo, Bianca Gomes Estevez
core  

Niemann-pick disease type A-a case report

, 2017
Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase.
Tangde, Ashwini, Pore, Shubhajyoti, Joshi, Anil, Anil Joshi, Ashwini Tangde, Bindu, Rajan, Rajan Bindu, Shubhajyoti Pore, Anjali Kulkarni, Kulkarni, Anjali   +9 more
core   +1 more source

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

Molecular Genetics and Metabolism Reports, 2015
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann–Pick disease types A and B.
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang   +9 more
doaj   +1 more source