Latest News
Asymptomatic Diagnosis May Decrease Complications in LCFAOD
Some Types of Hypersomnia May Share a Genetic Mutation With LCFAOD
Rhabdomyolysis Reported by Majority of Patients With LCFAOD
REN001 Linked With Increased Protein and Enzyme Activity in VLCAD Deficiency
Rare Disease Patients and Advocate to Headline NORD Conference in October
LCFAOD Has a Significant Impact on the Lives of Patients and Caregivers
Experimental LCFAOD Therapy REN001 Appears Safe and Well Tolerated in Phase 1 Trial
New Model Can Pinpoint Best Dosing Frequency of LCFAOD Treatment
An Interview With Dr. Emil Kakkis, Founder and CEO of Ultragenyx
Latest Clinical Trials
LCFAOD Quizzes
Test Your Knowledge About the Types of LCFAOD
Test Your Knowledge About the Symptoms of LCFAOD
Test Your Knowledge of the Complications of LCFAOD
Insights
The Value of Newborn Screening in Primary Carnitine Deficiency
Newborn screening for primary carnitine deficiency allows physicians to detect the potentially fatal illness early and begin treatment.
The Relationship Between SMA, Adiposity, and Fatty Acid Metabolism Defects
Spinal muscular atrophy has been linked with increased adiposity and fatty acid oxidation defects in patients with the disease.
Lessons From a Case Study of an Infant With Primary Carnitine Deficiency
A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder.
The Relationship Between Inborn Errors of Metabolism and Pediatric Dental Disorders
We shine a spotlight on a lesser-known implication of inborn errors of metabolism: dental effects that require treatment by a dentist.
The Challenges of Living With a Fatty Acid Oxidation Disorder
Patients with fatty acid oxidation disorders often suffer on multiple fronts due to the largely invisible nature of the disease.
The Far-Reaching Impact of Innovative Clinical Trial Designs in Rare Disease
We examine the lasting impact of innovative clinical trial designs for rare diseases on other clinical experiments.
Ocular Manifestations Prevalent in LCHAD Deficiency
Current estimates suggest that about half of patients with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency may suffer from retinopathy.
LCFAOD Features
Son’s Illness Drives Ohio Attorney to Become an Advocate for LCFAOD Patients
Ohio lawyer Eileen Sullivan Baker became an advocate for people with LCFAOD after her son, John, was diagnosed with the disease.
The Alliance for Regenerative Medicine Fights for Better Cell, Gene Therapies
The Alliance for Regenerative Medicine aims to help in the development of safe and effective regenerative therapies that can benefit rare disease patients.
‘Fundamental Flaws’ Plague Drug Development Process, Ultragenyx CEO Dr. Emil Kakkis Says
Ultragenyx CEO Dr. Emil D. Kakkis said federal regulators should focus more on biomarkers and less on clinical endpoints when it comes to drug approvals.
LCFAOD Patients Face Lifelong Challenges Despite Treatment
Patients with long chain fatty acid oxidation disorder share their stories as experts race to find better treatments for this rare disease.
Rare Care Podcast
- Loading...
Loading...
Loading... 
Loading...