Results 161 to 170 of about 25,072 (275)

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source

Genetic Association of Lipids and Lipid-Lowering Drug Target Genes With Atopic Dermatitis: A Drug Target Mendelian Randomization Study. [PDF]

Health Sci Rep
Luo M, Lin J, Zhuo Q, Lin L, Han Y.
europepmc   +1 more source

Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

, 2017
Tobias Piroth, Kai Boelmans, Florian Amtage, Michel Rijntjes, Anna Wierciochin, Thomas Musacchio, Cornelius Weiller, Jens Volkmann, Stephan Klebe   +8 more
openalex   +1 more source

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [version 1; referees: 2 approved, 2 approved with reservations] [PDF]

, 2016
et al,, Ory, Daniel S
core   +1 more source

NPC1 trafficking via VPS41-dependent LAMP carriers regulates endosomal cholesterol homeostasis. [PDF]

Proc Natl Acad Sci U S A
Ndoj K, Tantucci M, Sanza P, Zubak K, Marodin G, Kingma J, Snijder F, Veenendaal T, Kober DL, Zelcer N, Klumperman J.   +10 more
europepmc   +1 more source

Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

, 2017
Elizabeth A. Bowman, Dennis Velakoulis, Patricia Desmond, Mark Walterfang   +3 more
openalex   +2 more sources

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
europepmc   +1 more source

Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann–Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis* [PDF]

, 2015
Navin Rauniyar, Kanagaraj Subramanian, Mathieu Lavallée‐Adam, Salvador Martínez‐Bartolomé, William E. Balch, John R. Yates   +5 more
openalex   +1 more source

Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities. [PDF]

Front Cell Neurosci
Hawthorne SCB, Sandau US, Saugstad JA.
europepmc   +1 more source

In VivoAssessment of Neurodegeneration in Type C Niemann-Pick Disease by IDEAL-IQ [PDF]

, 2018
Ruomi Guo, Qing-Ling Li, Zhong-Xing Luo, Wen Tang, Ju Jiao, Jin Wang, Zhuang Kang, Shao-Qiong Chen, Yong Zhang   +8 more
openalex   +1 more source