EVALUATING THE USE OF PITAVASTATIN IN TYPE 2 DIABETES MELLITUS AND HIGH CARDIOVASCULAR RISK: CLINICAL CASE by M. N. Mamedov, М. A. Kolchina

Subjects: Get full text

Regulation of Hepatic Triacylglycerol Metabolism by CGI-58 Does Not Require ATGL Co-activation by Caleb C. Lord, Daniel Ferguson, Gwynneth Thomas, Amanda L. Brown, Rebecca C. Schugar, Amy Burrows, Anthony D. Gromovsky, Jenna Betters, Chase Neumann, Jessica Sacks, Stephanie Marshall, Russell Watts, Martina Schweiger, Richard G. Lee, Rosanne M. Crooke, Mark J. Graham, Justin D. Lathia, Takuya F. Sakaguchi, Richard Lehner, Guenter Haemmerle, Rudolf Zechner, J. Mark Brown

Subjects: Get full text

Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores by Rudolf Zechner, Petra C. Kienesberger, Guenter Haemmerle, Robert Zimmermann, Achim Lass

Subjects: Get full text

Accumulation of glyceryl ether lipids in Wolman's disease by H J Lin, M S Lie Ken Jie, F C Ho

Subjects: “…lipid storage disease…”
Get full text

Glycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C by Anna E. Eberwein, Swarat S. Kulkarni, Emma Rushton, Kendal Broadie

Subjects: “…lipid storage disease…”
Get full text

A Niemann–Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report by Abdullah Al-Shamrani, Khalid Al-Shamrani, Ahmed Bin Mahfoudh, Ahmed Sarar Mohamed, Sarar Mohamed

Subjects: Get full text

The Relationship of Cholangiocarcinoma with Human Immunodeficiency Virus Cholangiopathy and Cytomegalovirus Infection by Arda Yavuz, Rabia Burçin Girgin, İlyas Tuncer

Subjects: Get full text

Lipid abnormalities in foam cell reticulosis of mice, an analogue of human sphingomyelin lipidosis by Donald P. Fredrickson, Howard R. Sloan, Carl T. Hansen

Subjects: Get full text

Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder by K Saravanan, N Schaeren-Wiemers, D Klein, R Sandhoff, A Schwarz, A Yaghootfam, V Gieselmann, S Franken

Subjects: Get full text

Chanarin Dorfman Syndrome: A Case Report by Yasemin Ozkale, ilknur Erol, Oguz Canan, Murat Durdu

Subjects: Get full text

Could “islets of sparing” be a clue for neutral lipid storage disease with ichthyosis in patients with congenital ichthyosiform erythroderma? by Filiz Topaloglu Demir, Baran Cayhan, Cagla Karaoglan, Zafer Turkoglu, Nesimi Buyukbabani, Mesut Ayer, Bugrahan Duz, Bulent Uyanık

Subjects: Get full text

Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease by Peter B. Schneider, Eugene P. Kennedy

Subjects: Get full text

Morphological Characteristics of Peripheral Blood Cells in Patients with Neutral Lipid Storage Disease with Myopathy and Literature Review by Ying XING, Chengwei PU, Ke SHANG, Chenxue QU

Subjects: “…lipidoses|neutral lipid storage disease with myopathy|toxic changes of neutrophils|neutrophil alkaline phosphatase staining…”
Get full text

From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis by Burkhard S Kasper, Christian Thomas, Anne Albers, Ekkehard Kasper, Konrad Sandhoff

Subjects: “…Lipid storage disease…”
Get full text

From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis by Burkhard S Kasper, Christian Thomas, Anne Albers, Ekkehard Kasper, Konrad Sandhoff

Subjects: “…Lipid storage disease…”
Get full text

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients by Nelida Inés Noguera, Daniela Tavian, Corrado Angelini, Francesca Cortese, Massimiliano Filosto, Matteo Garibaldi, Sara Missaglia, Ariela Smigliani, Alessandra Zaza, Elena Maria Pennisi

Subjects: Get full text

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy by Daniela Tavian, Lorenzo Maggi, Marina Mora, Lucia Morandi, Cinzia Bragato, Sara Missaglia

Subjects: Get full text

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report by João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues

Subjects: “…Neutral lipid storage disease with myopathy…”
Get full text

Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report by Alyson M. Rich, Ema V. Karakoleva, James McInerney, Elana Farace, Sol De Jesus

Subjects: Get full text

Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy by Jiejing Shi, Qianqian Qu, Haiyan Liu, Yan Zhang, Wenhao Cui, Ping Chen, Haidong Lv

Subjects: “…neutral lipid storage disease with myopathy…”
Get full text