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Multiple acyl-CoA dehydrogenase deficiency due to a novel homozygous and compound heterozygous mutation in the ETFDH gene in three South African patients

Multiple acyl-CoA dehydrogenase deficiency due to a novel homozygous and compound heterozygous mutation in the ETFDH gene in three South African patients  Presented By: Francois H van der Westhuizen (PhD)a, Izelle Smuts (MBChB, MMed (Pead), PhD)b, Engela M Honey (MBChB.; MMed (Pead)c, Michael M Lippert [...]

By |2018-12-26T16:03:09+00:00December 26th, 2018|

Intravenous Sources of Medium Chain Triglycerides for Critically Ill Patients with Fatty Acid Oxidation Disorders

Intravenous Sources of Medium Chain Triglycerides for Critically Ill Patients with Fatty Acid Oxidation Disorders Authors: Heather Bausell, RD, LDN (1), Katherine Kim, MS (1, 2), Barbara Burton (1, 2) Affiliations: (1) Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA (2) Northwestern [...]

By |2018-12-26T16:02:35+00:00December 26th, 2018|

Infant Mortality associated with Inborn Errors of Metabolism: a study based on Sudden Death

Infant Mortality associated with Inborn Errors of Metabolism: a study based on Sudden Death Presented By: de Bitencourt, F.H.1; Vianna, F.S.L.2; Schwartz, I.V.D.3 1 Msc in Medical Science, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Affiliation: Postgraduated Program in Genetics and Molecular [...]

By |2018-12-26T16:02:02+00:00December 26th, 2018|

Endoplasmic reticulum-mitochondria crosstalk and redox homeostasis disruption in very long-chain acyl-CoA dehydrogenase deficient fibroblasts

Endoplasmic reticulum-mitochondria crosstalk and redox homeostasis disruption in very long-chain acyl-CoA dehydrogenase deficient fibroblasts Presented By: Bianca Seminotti1*, PhD, Al-Walid Mohsen1, PhD, Guilhian Leipnitz 1,2, PhD, Anuradha Karunanidhi 1, MS, PhD, Peter Wipf 3, PhD, Jerry Vockley 1,4, MD, PhD. 1Division Medical Genetics, Department Pediatrics, [...]

By |2018-12-26T16:01:22+00:00December 26th, 2018|

CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY: HOW TO SCREEN AND TREAT?

CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY: HOW TO SCREEN AND TREAT?   Presented By: Risto Lapatto, MD, PhD, Children’s Hospital, University of Helsinki, Helsinki, Finland Jetta Tuokkola, RD, PhD, Children’s Hospital, University of Helsinki, Helsinki, Finland Corresponding author contact information: risto.lapatto@hus.fi Phone+358504286413 Background: Carnitine [...]

By |2018-12-26T16:00:51+00:00December 26th, 2018|

Assessments of Exercise Tolerance and Muscle Function in Long Chain-Fatty Acid Oxidation Disorders (LC-FAOD): Results from a Phase 2 Open Label Study of UX007

Assessments of Exercise Tolerance and Muscle Function in Long Chain-Fatty Acid Oxidation Disorders (LC-FAOD): Results from a Phase 2 Open Label Study of UX007 Presented By: Jill Mayhew, PT1;  Jerry Vockley, MD, PhD2; Barbara Burton, MD3;  Gerard Berry, MD4; Nicola Longo, MD5; John Phillips, MD6; [...]

By |2018-12-26T16:00:16+00:00December 26th, 2018|

The biochemical basis for overlap of clinical features of LCHAD/TFP deficiency with mitochondrial respiratory chain defects: Implications for new therapeutic approaches

The biochemical basis for overlap of clinical features of LCHAD/TFP deficiency with mitochondrial respiratory chain defects: Implications for new therapeutic approaches Presented By: *Areeg El-Gharbawy1 MD, Bianca Seminotti1 PhD, Genevieve Sparagna 2PhD,Grant Hatch3 PhD, Shrabani Basu1MS, Anuradha Karunanidhi1 MS, Walid Al-Mohsen1PhD , Jerry Vockley1,4 MD, [...]

By |2018-12-26T15:59:45+00:00December 26th, 2018|

Results from a 78-week Single-arm, Open-label Phase 2 Study to Evaluate UX007 in Pediatric and Adult Patients with Moderate to Severe Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Results from a 78-week Single-arm, Open-label Phase 2 Study to Evaluate UX007 in Pediatric and Adult Patients with Moderate to Severe Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Jerry Vockley, MD, PhD1; Barbara Burton, MD2; Gerard Berry, MD3; Nicola Longo, MD4; John Phillips, MD5;  Amarilis Sanchez-Valle, MD6; [...]

By |2018-12-26T15:59:14+00:00December 26th, 2018|

Physical Interactions of the Mitochondrial Electron Transfer Chain and Fatty Acid Oxidation

Physical Interactions of the Mitochondrial Electron Transfer Chain and Fatty Acid Oxidation Yudong Wang1, Johan Palmfeldt2, Neils Gregersen2, Alexander Makhov3, J Conway3, Steve McCalley1, Meicheng Wang4, Hana Alharbi1, Shrabani Basu1, Xuemei Zeng6, Nathan Yates5, and Jerry Vockley1,6 1Department of Pediatrics, University of Pittsburgh School of Medicine, [...]

By |2018-12-26T15:58:39+00:00December 26th, 2018|

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery Judith Hagenbuchner1, Sabine Scholl-Bürgi2, Michael J. Ausserlechner2*, and Daniela Karall2* 1Departments of Pediatrics II and 2Pediatrics I, Medical University Innsbruck, Innsbruck, Austria Abstract Background: Patients diagnosed with [...]

By |2018-12-26T15:58:04+00:00December 26th, 2018|