Results 61 to 70 of about 2,248,227 (207)
Molecular Genetics and Metabolism Reports, 2019 Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes.
Evangelia Dimitriou +3 more
doaj +1 more source
Pharmacoepidemiology and Drug Safety, Volume 35, Issue 10, October 2026.ABSTRACT Purpose Gaucher disease (GD) requires lifelong high‐cost treatment within the Brazilian Unified Health System (SUS). In Brazil, treatment eligibility and monitoring are defined by Clinical Protocol and Therapeutic Guidelines (PCDT), while pharmaceutical prices are regulated by the Drug Market Regulation Chamber (CMED).
Marcus Carvalho Borin +4 more
wiley +1 more source
Malaria mosquito antimicrobial defence requires immunity and detoxification gene regulation by Lola
Insect Molecular Biology, Volume 35, Issue 5, Page 576-593, October 2026.Malaria mosquito antimicrobial defence requires upregulation of lola. Attenuation of lola in the midgut of Anopheles albimanus mosquitoes inhibits the upregulation of immunity genes induced by challenge. Putative target genes of the Lola transcription factor were revealed by lola attenuation, including Cecropin‐C, Draper, PPAF2, Clip‐domain serine ...
Heidi Espadas‐Álvarez +1 more
wiley +1 more source
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients
Frontiers in Immunology, 2019 The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases ...
Catia S. Pereira +25 more
doaj +1 more source
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases [PDF]
, 2015 BACKGROUND Niemann-Pick type C (NP-C) is a rare progressive neurodegenerative lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic procedures.
Mathis, Déborah +17 more
core +1 more source
Genetic disease and Niemann-Pick disorders: novel treatments and drug delivery systems
, 2023 A large number of diseases result from mutation or alteration in the structure and function of genes. Niemann-Pick disease is a very rare autosomal recessive lysosomal storage disorder.
Dua, K +6 more
core +1 more source
Yenidoğan döneminde birleşik heterozigot Niemann-Pick tip C hastalığı
, 2021 Yenidoğan döneminde birleşik heterozigot Niemann-Pick Type C hastalığı Niemann-Pick Tip C hastalığı (NPC), esterifiye olmamış kolesterollerin lizozomlarda depolanması ile karekterize nörodejeneratif bir lizozomal depo hastalığıdır.
Deniz ANUK-İNCE +3 more
core +2 more sources
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 +2 more
doaj +1 more source
The Pick Knitwear Story: 1856-1956
, 1956 An account of ]. PICK & SONS LTD LEICESTER Manufacturers for a hundred years.
Pick, J. B.
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