Gene panel study for target metabolic diseases of newborn mass screening in Japan – fatty acid oxidation defects –

Gene panel study for target metabolic diseases of newborn mass screening in Japan - fatty acid oxidation defects - 1,2Hideo Sasai M.D.,Ph.D., 1Yasuhiko Ago M.D., 1,2,3Hiroki Otsuka M.D., 4Junichi Hosokawa M.D.,Ph.D., 4Ryoji Fujiki Ph.D., 4Osamu Ohara Ph.D., 5Yoko Nakajima M.D.,Ph.D., 5Tetsuya Ito M.D.,Ph.D., 6Kei Hara M.D.,Ph.D., [...]

By |2018-12-26T15:09:21+00:00December 26th, 2018|

Metabolomics profiling in dried blood spots differentiates clinical phenotypes in VLCADD

Metabolomics profiling in dried blood spots differentiates clinical phenotypes in VLCADD Authors: Suzan Knottnerus1,3, Jeannette Bleeker1,3, Maria van der Ham2, Mia Pras-Raves1,3, Riekelt Houtkooper1, Gepke Visser1,3, Monique de Sain-van der Velden2 Affiliations: 1Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; 2Department [...]

By |2018-12-26T15:08:27+00:00December 26th, 2018|

Improved Outcomes with UX007 in LC-FAOD Patients Treated Via an Expanded Access Program

Improved Outcomes with UX007 in LC-FAOD Patients Treated Via an Expanded Access Program Authors: Jinay Shah, RPh, MS1; Brian King1; Hank Mansbach, MD1; Sarah Chesler, BSN1; Emil Kakkis, MD, PhD1; Deborah Marsden, MD1 1Ultragenyx Pharmaceutical Inc., Novato, CA, USA Corresponding Author:  Jinay Shah, RPh, MS, Ultragenyx [...]

By |2018-12-26T15:06:40+00:00December 26th, 2018|

Altered fiber type distribution, reduced lipid transport, and decreased carnitine concentrations in skeletal muscle of subjects with fatty acid oxidation disorders

Altered fiber type distribution, reduced lipid transport, and decreased carnitine concentrations in skeletal muscle of subjects with fatty acid oxidation disorders Oleg Varlamov1, Cary O. Harding,2, Charles Roberts Jr1, Jon Gangoiti3, Bruce Barhsop3, Mike Lasarev4, Svyatoslav Kleshchev1, Jonathan Q. Purnell5, and Melanie B. Gillingham2 Corresponding author: [...]

By |2020-01-28T17:29:16+00:00December 26th, 2018|

RESTORATION OF VLCAD IN KNOCKOUT MICE AND DEFICIENT HUMAN FIBROBLASTS USING NOVEL mRNA TECHNOLOGY: A MODEL TO TREAT FATTY ACID β-OXIDATION DISORDERS

RESTORATION OF VLCAD IN KNOCKOUT MICE AND DEFICIENT HUMAN FIBROBLASTS USING NOVEL mRNA TECHNOLOGY: A MODEL TO TREAT FATTY ACID β-OXIDATION DISORDERS Ermal Aliu1, Stephanie Mihalik1, Shawn Hillier3, Huifang Shi1, Catherine Kochersperger1, Anuradha Karunanidhi1, Xuling Zhu3, Christine DeAntonis3, Summar Siddiqui3, Kristine Burke3, Al-Walid Mohsen1, Patrick Finn3, [...]

By |2018-12-26T15:05:14+00:00December 26th, 2018|

Impact of UX007 and Dietary Management on Major Clinical Events in a 78-Week Single-arm Open-label Phase 2 LC-FAOD Study

Impact of UX007 and Dietary Management on Major Clinical Events in a 78-Week Single-arm Open-label Phase 2 LC-FAOD Study Authors: Jerry Vockley, MD, PhD1; Nicola Longo, MD2; Megan Madden, MS, RD3; Lauren Dwyer MPH, RD3; Yunming Mu, PhD3; Chao-Yin Chen, PhD3; Jason Cataldo, DO3 1 University [...]

By |2018-12-26T15:04:35+00:00December 26th, 2018|

Diagnosis of Fatty Acid Oxidation Disorders: Experience at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory

Diagnosis of Fatty Acid Oxidation Disorders: Experience at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory Sharma R, Tanpaiboon P, Salazar D, Bonilla-Guerrero R, and Lacbawan, FL. Biochemical Genetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690. Background: Fatty acid oxidation disorders are [...]

By |2018-12-26T15:03:51+00:00December 26th, 2018|

Structural Insights into Drug Therapy of FAODs

Structural Insights into Drug Therapy of FAODs Al-Walid Mohsen1,2*, PhD, Anuradha Karunanidhi1, MS, Catherine Kochersperger1, MS, Areeg Al-Gharabawy1, MD, Bianca Seminotti1,3, PhD, Guilhian Leipnitz1,3, PhD, MSc, Peter Wipf4, PhD, Jerry Vockley1,2, MD, PhD. 1Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA, [...]

By |2018-12-26T15:03:15+00:00December 26th, 2018|

Tissue-Specific Roles of Fatty Acid Oxidation

Tissue-Specific Roles of Fatty Acid Oxidation Michael J. Wolfgang Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205. Fatty acid oxidation is a fundamental metabolic pathway that is required to maintain cellular energetics of many disparate tissues.  This is made [...]

By |2018-12-26T15:02:35+00:00December 26th, 2018|

Activation and alleviation of cellular stress responses in fatty acid oxidation disorders

Activation and alleviation of cellular stress responses in fatty acid oxidation disorders Authors: Martin Lund*, Niels Gregersen*, Rikke Olsen* * Research unit for molecular medicine, Aarhus University, Denmark Corresponding author: Rikke Olsen rikke.olsen@clin.au.dk +4578455409 Background: The primary cellular pathogenic factor in long-chain fatty acid [...]

By |2020-01-28T17:24:56+00:00December 26th, 2018|
Go to Top