A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder.
Researchers are increasingly exploring the potential of gene therapy in treating respiratory diseases.
The difficulty in diagnosing hereditary angioedema lies in the variability of its phenotype. An initial misdiagnosis is not uncommon.
Medical researchers reported on epidemiological data concerning cystic fibrosis, yielding new insights on how to improve clinical outcomes.
Multidisciplinary cooperation is a key part of treating Alagille syndrome, which can affect various systems in the body.
The inhibition of the complement system in cold agglutinin disease has been shown to result in impressive clinical recovery.
Questionnaires assessing the quality of life of patients with hemophilia reveal that a large percentage of individuals struggle on a daily basis.
Pregnancy is a risk for clinical deterioration in systemic mastocytosis; conversely, systemic mastocytosis poses a risk to the fetus as well.
Various research institutions are investing time and money to refine gene therapy as a viable treatment technique for patients with DMD.
Recently developed TKIs such as ripretinib and avapritinib have the potential to change the treatment landscape of GIST.