Results 21 to 30 of about 25,991 (218)
Difficult diagnosis. Niemann - Pick disease, type C
Медицинский совет, 2014 Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the ...
L. S. Namazova-baranova +5 more
doaj +1 more source
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review [PDF]
, 2016 Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due to the wide range in age of onset
Bauer, P +10 more
core +2 more sources
Fostering collaborative research for rare genetic disease: The example of Niemann-Pick type C disease [PDF]
, 2016 Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the
Austin, Christopher P +8 more
core +2 more sources
Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease [PDF]
, 2014 Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene.
Annik Lampo +3 more
core +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 +2 more
doaj +1 more source
The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran [PDF]
, 2017 How to Cite This Article: Noroozi Asl S, Vakili R, Ghaemi N, Eshraghi P. The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. Iran J Child Neurol. Summer 2017; 11(3):53-56. AbstractNiemann–Pick disease type
ESHRAGHI, Peyman +3 more
core +2 more sources
Nutrition management of Niemann Pick disease type C: A case report
Endocrine Regulations, 2021 Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Viana dos Santos Rejane +4 more
doaj +1 more source
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. [PDF]
, 2017 PURPOSE OF REVIEW: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay.
Anheim, M +17 more
core +3 more sources
Journal of Medical Case Reports, 2012 Introduction Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations.
Skorpen Johannes +2 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 +8 more
core +1 more source