Results 21 to 30 of about 1,916,945 (216)

Aspectes moleculars de dues malalties de transport lisosòmic: la cistinosi i la malaltia de Niemann-Pick tipus C [PDF]

, 2012
[cat] La cistinosi i la malaltia de Niemann-Pick tipus C (NPC) són dues patologies hereditàries monogèniques poc freqüents, per aquest motiu estan classificades dins del grup de malalties anomenades rares.
Macías Vidal, Judit
core   +2 more sources

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
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source

Aproximació terapèutica per a la malaltia de Gaucher basada en xaperones [PDF]

, 2011
[cat] En aquesta tesi s’ha realitzat una aproximació terapèutica per a la malaltia de Gaucher, basada en xaperones farmacològiques. La malaltia de Gaucher és una malaltia d’acúmul lisosòmic d'herència autosòmica recessiva, causada per mutacions en el ...
Sànchez Ollé, Gessamí
core   +2 more sources

Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases [PDF]

The Ukrainian Biochemical Journal, 2016
To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the ...
N. V. Olkhovych
doaj   +1 more source

Priapism associated with Niemann-Pick disease in a 15-year-old boy

Indian Journal of Urology, 2011
A 15-year-old boy presented with priapism of 46 h duration. There was no known cause of priapism detected in him. During evaluation, biopsy of the lymph node and bone marrow aspiration detected patient to be having Niemann-Pick disease.
M V Krishna Shetty, M Udaya Kumar, T K Sen   +2 more
doaj   +1 more source

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

Defective Autophagy, Mitochondrial Clearance and Lipophagy in Niemann-Pick Type B Lymphocytes. [PDF]

PLoS ONE, 2016
Niemann-Pick disease type A (NP-A) and type B (NP-B) are lysosomal storage diseases (LSDs) caused by sphingomyelin accumulation in lysosomes relying on reduced or absent acid sphingomyelinase.
Barbara Canonico, Erica Cesarini, Sara Salucci, Francesca Luchetti, Elisabetta Falcieri, Gianna Di Sario, Fulvio Palma, Stefano Papa   +7 more
doaj   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source