Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Dennis J Dietzen"'
Autor:
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 8, Pp 100600- (2024)
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal accumulation of unesterified cholesterol. The precise pathogenic mechanism of NPC1 remains i
Externí odkaz:
https://doaj.org/article/69e323f6f49244688375dc2088920f9e
Autor:
Mark A. Marzinke, William Clarke, Dennis J. Dietzen, Andrew N. Hoofnagle, Gwendolyn A. McMillin, Maria Alice V. Willrich
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 27, Iss , Pp 1-6 (2023)
Externí odkaz:
https://doaj.org/article/fe8a4e30f4ba4d25bb00bfe167451f5d
Autor:
Pamela Kell, Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena-Raluca Nicoli, Precilla D'Souza, Cynthia J. Tifft, Amanda L. Gross, Heather L. Gray-Edwards, Douglas R. Martin, Miguel Sena- Esteves, Dennis J. Dietzen, Manmilan Singh, Jingqin Luo, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104627- (2023)
Summary: Background: GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by mutations in the GLB1 gene and deficiency in β-galactosidase. Delay of symptom onset and increase in lifespan in a GM1 gangliosidosis cat model after adeno
Externí odkaz:
https://doaj.org/article/c41107db896a498c9a58d10f4784660e
Publikováno v:
Toxicology Communications, Vol 5, Iss 1, Pp 161-164 (2021)
AbstractLithium poisoning remains common. Symptomatic lithium poisonings often require hemodialysis, especially when the patient has impaired renal function. An effective and non-invasive treatment to remove excess lithium would be desirable. We test
Externí odkaz:
https://doaj.org/article/a04bb8c9e90649379b852d4c24e5b32b
Autor:
Rohini Sidhu, Yawo Mondjinou, Mingxing Qian, Haowei Song, Arun Babu Kumar, Xinying Hong, Fong-Fu Hsu, Dennis J. Dietzen, Nicole M. Yanjanin, Forbes D. Porter, Elizabeth Berry-Kravis, Charles H. Vite, Michael H. Gelb, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 8, Pp 1410-1424 (2019)
Niemann-Pick disease type C1 (NPC1) is a fatal, neurodegenerative, cholesterol storage disorder. With new therapeutics in clinical trials, there is an urgency to improve diagnostics and monitor therapeutic efficacy with biomarkers. In this study, we
Externí odkaz:
https://doaj.org/article/1a79762502604159934caf9250b40d79
Publikováno v:
Clinical Chemistry. 68:1471-1474
Autor:
Kwaku D Tawiah, Caroline E. Franks, Jessica Tang, Avihu Gazit, Dennis J. Dietzen, Christopher W. Farnsworth
Publikováno v:
Clinical Biochemistry. :74-78
B-type natriuretic peptide (BNP) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) are essential biomarkers for the evaluation of cardiac pathologies. However, pediatric reference intervals for BNP and NT-proBNP are not well defined and conco
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2546
Analysis of clinically relevant amino acids using ion exchange chromatography coupled to photometric/fluorescent detection has been an indispensable component in the detection of inborn errors of metabolism for six decades. Detection of amino acids u
Autor:
Patricia M Jones, Dennis J Dietzen, Andrew N Hoofnagle, Christina M Lockwood, Carmen L Wiley, Eric Q Konnick
Publikováno v:
The journal of applied laboratory medicine. 7(6)
Autor:
Antti Kyrönlahti, Marjut Pihlajoki, Mikko P. Pakarinen, Rebecca B. Cochran, Emmi Liljeström, Tea Soini, Jiansheng Huang, David B. Wilson, Markku Heikinheimo, David A. Rudnick, Dennis J. Dietzen
Publikováno v:
Hepatology International. 15:166-178
Background GATA6, a transcription factor expressed in cholangiocytes, has been implicated in the response to liver injury. In biliary atresia, a disease characterized by extrahepatic bile duct obstruction, liver expression of GATA6 increases with pat