About Informnetusr

This author has not yet filled in any details.
So far Informnetusr has created 75 blog entries.

UPMC Children’s Hospital Center for Rare Disease Therapy Interview with Dr. Jerry Vockley

UPMC Children's Hospital Center for Rare Disease Therapy Interview with Dr. Jerry Vockley Recently, UPMC Children's Hospital of Pittsburgh shared a video featuring some of the important work on rare diseases taking place today. The video featured Jerry Vockley, M.D., Ph.D., scientific director of INFORM and professor of human genetics and the [...]

By |2019-03-06T19:48:16+00:00March 6th, 2019|

INFORM’S NEW WEBSITE PROVIDES HELPFUL INFORMATION ON FATTY ACID OXIDATION DISORDERS (FAODs) FOR FAMILIES AND PROFESSIONALS

INFORM’S NEW WEBSITE PROVIDES HELPFUL INFORMATION ON FATTY ACID OXIDATION DISORDERS (FAODs) FOR FAMILIES AND PROFESSIONALS PITTSBURGH, PA – Parents worried about the diagnosis and treatment of children with fatty acid oxidation disorders (FAODs) now have a valuable resource: informnetwork.org, a new website by the International Network for Fatty Acid Oxidation Research [...]

By |2019-03-06T19:39:06+00:00March 6th, 2019|

INFORM ADVANCES RESEARCH AND TREATMENT OF FATTY ACID OXIDATION DISORDERS (FAODs)

INFORM ADVANCES RESEARCH AND TREATMENT OF FATTY ACID OXIDATION DISORDERS (FAODs) Fatty acid oxidation disorders (FAODs) can threaten the lives of infants, children and adults. These inherited metabolic conditions prevent the body from generating cellular energy from fats during times of stress, illness or fasting, and can result in mild symptoms, chronic [...]

By |2019-03-06T19:38:05+00:00March 6th, 2019|

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|