Results 101 to 110 of about 25,072 (275)

Dual Biologic Therapy in a Patient With Niemann‐Pick Type C and Crohn Disease

, 2022
Alexandra Hudson, Patricia Almeida, Hien Q. Huynh   +2 more
openalex   +1 more source

Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer’s disease research

Neural Regeneration Research
Alzheimer’s disease is initially thought to be caused by age-associated accumulation of plaques, in recent years, research has increasingly associated Alzheimer’s disease with lysosomal storage and metabolic disorders, and the explanation of its ...
Vikas Anil Gujjala, Morteza Abyadeh, Isaiah Klimek, Alexander Tyshkovskiy, Naci Oz, José Pedro Castro, Vadim N. Gladyshev, Jason Newton, Alaattin Kaya   +8 more
doaj   +1 more source

NPD TYPE C — WAY TO THE EFFECTIVE THERAPY THROUGH TIMELY DIAGNOSIS

Педиатрическая фармакология, 2011
In recent years in expanding diagnostic capabilities and improved knowledge level diseases that were previously considered rare become increasingly identified.
L.S. Namazova-Baranova, L.S. Vysotskaya, A.M. Mamed"yarov, T.V. Margieva, N.D. Vashakmadze, A.K. Gevorkyan   +5 more
doaj   +2 more sources

Genotype-Phenotype Correlations in Type B Niemann-Pick Disease • 725 [PDF]

, 1998
Margaret M. McGovern, Sylvia Wozniak, Robert J. Desnick, Edward H. Schuchman   +3 more
openalex   +1 more source

Proteomic analysis identifies biomarkers for Niemann–Pick disease, type C1 [PDF]

, 2012

openalex   +1 more source

Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells [PDF]

, 2017
Rong Li, Jon Hao, Hideji Fujiwara, Miao Xu, Shu Yang, Sheng Dai, Yan Long, Manju Swaroop, Changhui Li, Mylinh Vu, Juan Marugán, Daniel Ory, Wei Zheng   +12 more
openalex   +1 more source

Niemann-Pick Disease, Type B [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment

Diagnostics
The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs).
Patryk Lipiński, Anna Tylki-Szymańska
doaj   +1 more source

Analysis of Genetic Variation of rs1542705 Marker in SMPD1 Gene Region as an Informative Marker for Molecular Diagnosis of Niemann-Pick Disease in Isfahan Population [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016
Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1.
Nasim Ebrahimi, Sadegh Vallian Borujeni
doaj  

Sterol-binding proteins in late endosomes : Regulation of endosome motility and lipid metabolism [PDF]

, 2011
Despite its bad reputation in the mass media, cholesterol is an indispensable constituent of cellular membranes and vertebrate life. It is, however, also potentially lethal as it may accumulate in the arterial intima causing atherosclerosis or elsewhere ...
Uronen, Riikka-Liisa
core