The parental burden of care of children with rare diseases is considerable and deserves due attention and support.
Researchers investigated whether there is a biological link between primary carnitine deficiency and autism spectrum disorder.
Newborn screening for primary carnitine deficiency allows physicians to detect the potentially fatal illness early and begin treatment.
Spinal muscular atrophy has been linked with increased adiposity and fatty acid oxidation defects in patients with the disease.
A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder.
We shine a spotlight on a lesser-known implication of inborn errors of metabolism: dental effects that require treatment by a dentist.
Patients with fatty acid oxidation disorders often suffer on multiple fronts due to the largely invisible nature of the disease.
We examine the lasting impact of innovative clinical trial designs for rare diseases on other clinical experiments.
Current estimates suggest that about half of patients with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency may suffer from retinopathy.
Until recently, only 68 cases of CACTD had been reported in the literature. This number increased to 87 with a recent publication by Ryder et al.
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