Magnetic resonance imaging and spectroscopy of the long-chain fatty acid β-oxidation deficient heart

Magnetic resonance imaging and spectroscopy of the long-chain fatty acid β-oxidation deficient heart Adrianus J. Bakermans PhD1, Jeannette C. Bleeker MD2,3, Paul de Heer MSc4, Aart J. Nederveen PhD1, Ronald J.A. Wanders PhD3, and Gepke Visser MD PhD2. 1Radiology, Academic Medical Center, University of Amsterdam, Amsterdam, [...]

By |2018-12-26T14:42:45+00:00December 26th, 2018|

Assessment of mitochondrial bioenergetics in fatty acid oxidation deficient fibroblasts

Assessment of mitochondrial bioenergetics in fatty acid oxidation deficient fibroblasts Bianca Seminotti1*, PhD, Al-Walid Mohsen1, PhD, Guilhian Leipnitz1, PhD, Anuradha Karunanidhi1, MSc, Vera Y. Roginskaya2, MSc, Bennett Van Houten2, PhD, Peter Wipf3, PhD, Jerry Vockley1, MD, PhD. 1Division Medical Genetics, Department of Pediatrics, University of Pittsburgh, [...]

By |2019-08-16T15:51:52+00:00December 26th, 2018|

Mitochondrial energy metabolism and reactive oxygen species level disruption in ACAD9- deficient fibroblasts

Mitochondrial energy metabolism and reactive oxygen species level disruption in ACAD9- deficient fibroblasts Guilhian Leipnitz, PhD  (1,2), Al-Walid Mohsen, PhD , (1) Anuradha Karunanidhi, MS (1), Bianca Seminotti, PhD (1) Vera Y. Roginskaya, MS  (2) , Bennett Van Houten, PhD  (2) , Jerry Vockley, MD, PhD [...]

By |2018-12-26T14:40:48+00:00December 26th, 2018|

Riboflavin-responsive and Non-responsive Mutations in the FAD Synthase Gene Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory Chain Deficiency

Riboflavin-responsive and Non-responsive Mutations in the FAD Synthase Gene Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory Chain Deficiency Signe Mosegaard, BSc, Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark Email: signe.mosegaard@clin.au.dk Phone: +45 20835507 Abstract:   Riboflavin is an [...]

By |2018-12-26T14:40:02+00:00December 26th, 2018|

10- year-follow-up in patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD) treated with heptanoate (C7)

10- year-follow-up in patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD) treated with heptanoate (C7) Manuela Zlamy (1), Karin Pichler (1), Miriam Michel (1), Sabine Scholl-Bürgi (1), Daniela Karall (1) (1) Department of Pediatrics I, Inherited Metabolic Disorders ,Medical University of Innsbruck, Austria Corresponding author: [...]

By |2020-01-28T17:14:14+00:00December 26th, 2018|

The Use of Massive Anabolic Therapy to Rescue an Infant with Heart Failure and VLCAD Deficiency

The Use of Massive Anabolic Therapy to Rescue an Infant with Heart Failure and VLCAD Deficiency Amy Kritzer, MD, Ed Neilan, MD PhD, Anne O’Donnell, MD PhD, Monica Wojcik, MD, Francis Rohr, RD, Stacey Tarrant, RD, Wen-Hann Tan, BMBS and Gerard Berry, MD Boston Children’s Hospital [...]

By |2018-12-26T14:38:43+00:00December 26th, 2018|

Delineating the patient population with Medium chain acyl-CoA dehydrogenase deficiency (MCADD): British Columbia Children’s Hospital (BCCH) clinic experience.

Delineating the patient population with Medium chain acyl-CoA dehydrogenase deficiency (MCADD): British Columbia Children’s Hospital (BCCH) clinic experience. Kathleen Duddy RN, MSN, CPNP (P)1, Ramona Salvarinova MD, FRCPC, FCCMG1*, Graham Sinclair PhD FCCMG2, Sylvia Stockler MD, PhD, MBA, FRCPC1 1Division of Biochemical Diseases, Department of Pediatrics [...]

By |2018-12-26T14:37:57+00:00December 26th, 2018|

Impaired anaplerosis after exercise in murine very long-chain acylCoA dehydrogenase deficiency (VLCAD-/-) is improved with Triheptanoin chow.

Impaired anaplerosis after exercise in murine very long-chain acylCoA dehydrogenase deficiency (VLCAD-/-) is improved with Triheptanoin chow. Garen Gaston, MS1, Jon A. Gangoiti, MS2, Bruce A. Barshop, MD, PhD2, Shelley Winn, PhD1, Cary O. Harding, MD1, Melanie B. Gillingham1 1Department of Molecular & Medical Genetics at [...]

By |2018-12-26T14:34:40+00:00December 26th, 2018|

Clinical and Biochemical Outcome of Patients with Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency

Clinical and Biochemical Outcome of Patients with Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency Daniela Anderson, Krista Viau, Marzia Pasquali, Nicola Longo Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah School of Medicine Medium‐Chain Acyl‐CoA Dehydrogenase (MCAD) deficiency has been part of the [...]

By |2018-12-26T14:33:49+00:00December 26th, 2018|

Hydroxylated acylcarnitine can be elevated in newborns with carnitine acylcarnitine transporter deficiency

Hydroxylated acylcarnitine can be elevated in newborns with carnitine acylcarnitine transporter deficiency Mari Mori, MD, MS, Ashley S. Naughton, MD, Briana Scott, MD, Queenie Tan, MD, PhD, Surekha Pendyal, MSc, MEd, RD, Sarah P. Young, PhD, Loren Pena, MD, PhD Duke University Medical Center, North Carolina, [...]

By |2018-12-26T14:37:17+00:00December 26th, 2018|
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