Mitochondrial dysfunction caused by fatty acids accumulating in VLCAD deficiency Alexandre Umpierrez Amaral PhD1,3*, Cristiane Cecatto MSc1, Kálita dos Santos Godoy1, Lucas Henrique Rodrigues da Silva1, Kaleb Pinto Spannenberger1, Janaína Camacho da Silva PhD1, Roger Frigério Castilho MD, PhD2, Moacir Wajner MD, PhD1 1Departamento de Bioquímica, [...]
Development and characterization of patient-specific iPSC-derived retinal pigmentary epithelia (RPE)-like cells as a model of LCHAD-associated retinopathy. Tiffany DeVine, PhD1 Garen Gaston, MS1, Dietrich Matern, MD, PhD2, Cary O. Harding, MD1, Melanie B. Gillingham, PhD1 1Department of Molecular & Medical Genetics at Oregon Health & Science [...]
Fatty acid oxidation disorders: case series of a tertiary teaching hospital of Southern Brazil Ida Vanessa Doederlein Schwartz 1,2; Bibiana Mello de Oliveira 2; Ana Paula Kurz de Boer2; Renata Barreto Tenorio2; Ana Karolina Maia de Andrade2; Carolina Fischinger Moura de Souza2 Department of Genetics, [...]
The comparison of the digestion and absorption of trioctanoin (C8) and triheptanoin (C7) in patients with long-chain fatty acid oxidation disorders. Gillingham MB1, Guillory KK1, Martin JM1, Matern, D2, Harding CO1, Vockley J3 1Oregon Health & Science University, Portland, OR, 2Mayo Clinic Biochemical Genetics Laboratory, Rochester, [...]
Assessment of the outcome and biochemical characteristics of infants with abnormal NBS for systemic primary carnitine deficiency and its the carrier frequency in the US Kimihiko Oishi, MD, Lissette Estrella, NP, Ashley H. Birch, PhD, Ruth Kornreich, PhD, Lisa Edelmann, PhD, Pankaj Prasun, MD, George A. [...]
VLCAD deficiency related chronic inflammation pattern is suggestive of systemic mediators Authors: Megan Beck, PhD, University of Tennessee Health Science Center, Memphis, TN, USA Angel Lin, BS, University of Tennessee Health Science Center, Memphis, TN, USA Josh Michel, MS, University of Pittsburgh, School Med, Pittsburgh, PA, [...]
Molecular Diagnosis for Target Metabolic Diseases of Newborn Screening Using a Gene Panel in Japan Authors: 1,2 Hideo Sasai M.D.,Ph.D., 1,2 Hiroki Otsuka M.D., 3 Ryoji Fujiki Ph.D., 3 Osamu Ohara Ph.D., 4 Yoko Nakajima M.D.,Ph.D., 4 Tetsuya Ito M.D.,Ph.D., 5 Masahisa Kobayashi M.D.,Ph.D., 6 Go [...]
Health-related Quality of Life in Patients with long-chain Fatty Acid Oxidation Disorders Authors: Suzan JG Knottnerus 1,2, MD, Jeannette C Bleeker 1,2, MD, Peter M. van Hasselt MD PhD 2, Frits A. Wijburg, MD 1, Gepke Visser, MD PhD 1,2 Affiliations: 1 Department of Metabolic Diseases, [...]
A mitochondrial-targeted electron scavenger and a cardiolipin binding peptide decrease superoxide generation and improve mitochondrial respiration in ACAD9- deficient fibroblasts Guilhian Leipnitz, PhD1,2*, Bianca Seminotti, PhD1, Al-Walid Mohsen, PhD1, Anuradha Karunanidhi, MS1, Vera Y. Roginskaya, MS3, Peter Wipf, PhD4, Bennett Van Houten, PhD3, Jerry Vockley, [...]
Inhibiting Long-Chain 3-Ketoacyl-CoA Thiolase: A Novel Strategy for Treating Mitochondrial Fatty Acids Oxidation Disorders Al-Walid Mohsen, PhD1*, Anuradha Karunanidhi, MS1, Bianca Seminotti, PhD1, Guilhian Leipnitz, PhD1,2, Catherine Kochersperger, MS1, Lina Ghaloul-Gonzalez1, MD, Shrabani Basu, Mike Bennet, PhD4, Jerry Vockley, MD, PhD1,4 1Division Medical Genetics, Department Pediatrics, [...]
