Effects of triheptanoin ( UX007 ) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label , long‐term extension study

Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

(2019) Jerry Vockley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

(2018) Suzan J. G. Knottnerus et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency

(2018) Kenji Yamada et al.   JOURNAL OF HUMAN GENETICS

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

(2017) J. Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

(2016) J. Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

(2016) Shabnaz Siddiq et al.   Orphanet Journal of Rare Diseases

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review

(2015) Jerry Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15years Experience

(2015) Charles R. Roe et al.   MOLECULAR GENETICS AND METABOLISM

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

(2015) Daniela Karall et al.   Orphanet Journal of Rare Diseases

Blinded Outcome Assessment Was Infrequently Used and Poorly Reported in Open Trials

(2015) Brennan C. Kahan et al.   PLoS One

Heptanoate as a Neural Fuel: Energetic and Neurotransmitter Precursors in Normal and Glucose Transporter I-Deficient (G1D) Brain

(2012) Isaac Marin-Valencia et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

(2012) Julien Baruteau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fatty acid oxidation disorders: outcome and long-term prognosis

(2010) Bridget Wilcken   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

(2010) Ute Spiekerkoetter   JOURNAL OF INHERITED METABOLIC DISEASE

Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats. II. Effects on lipolysis, glucose production, and liver acyl-CoA profile

(2009) Lei Gu et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders

(2009) S. Evans et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

(2009) U. Spiekerkoetter et al.   JOURNAL OF INHERITED METABOLIC DISEASE