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Pediatrics in Review, ISSN 0191-9601, 01/2016, Volume 37, Issue 1, pp. 3 - 17
Journal Article
JOURNAL OF LIPID RESEARCH, ISSN 0022-2275, 03/2019, Volume 60, Issue 3, pp. 475 - 483
The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.... 
CERAMIDE SYNTHESIS CAUSES | rare disease | VARIANTS | sphingolipids | BIOCHEMISTRY & MOLECULAR BIOLOGY | gangliosides | LYSOSOMAL STORAGE | AUTOPHAGY | metabolic disease | ceramides | HEREDITARY SENSORY NEUROPATHY | DEFICIENCY | storage diseases | genetics | glycosphingolipids | SERINE PALMITOYLTRANSFERASE | SPHINGOSINE-1-PHOSPHATE | DISORDER | MUTATIONS | bioactive lipids | JLR s
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2010, Volume 87, Issue 3, pp. 410 - 417
Journal Article
Journal Article
by Bentler, Kristi and Zhai, Shaohui and Elsbecker, Sara and Elsbecker, Sara A and Arnold, Georgianne and Arnold, Georgianne L and Burton, Barbara K and Burton, Barbara and Vockley, Jerry and Cameron, Cynthia A and Cameron, Cynthia and Hiner, Sally J and Edick, Mathew J and Berry, Susan A and Berry, Susan and Thomas, Janet and Dodge, Melinda and Singh, Rani and Lakshman, Sangeetha and Coakley, Katie and Stembridge, Adrya and Russi, Alvaro Serrano and Phillips, Emily and Edano, Clare and Shrestha, Sheela and Hoganson, George and Dwyer, Lauren and Hainline, Bryan and Hainline, Sarah and Romie, Susan and Asamoah, Alexander and Goodin, Kara and Rajakaruna, Cecilia and Jackson, Kelly and Hamosh, Ada and Vernon, Hilary and Smith, Nancy and Ahmad, Ayesha and Lipinski, Sue and Feldman, Gerald and Font-Montgomery, Esperanza and Peck, Dawn and Pena, Loren D.M and Koeberl, Dwight D and Jiang, Yong-hui and Kishnani, Priya S and Rizzo, William and Dawson, Machelle and Ambrose, Nancy and Levy, Paul and Kronn, David and Fong, Chin-to and D’Aco, Kristin and Hart, Theresa and Erbe, Richard and Samons, Melissa and Leslie, Nancy and Powers, Racheal and Bartholomew, Dennis and Goff, Melanie and vanCalcar, Sandy and Hansen, Joyanna and Walsh-Vockley, Cate and Rhead, William and Dimmock, David and Engelking, Paula and Bird, Cassie and Swan, Ashley and Schwoerer, Jessica Scott and Henry, Sonja and Narumanchi, TaraChandra and Hummel, Marybeth and Wilkins, Jennie and Davis-Keppen, Laura and Stein, Quinn and Loman, Rebecca and Justice, Kaitlin and Inborn Errors Metabolism and Inborn Errors of Metabolism Collaborative
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2016, Volume 119, Issue 1-2, pp. 75 - 82
Journal Article