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.
Insights
The Challenges of Using Gene Therapy to Treat Respiratory Disease
Researchers are increasingly exploring the potential of gene therapy in treating respiratory diseases.
The Challenges of Diagnosing and Managing Hereditary Angioedema
The difficulty in diagnosing hereditary angioedema lies in the variability of its phenotype. An initial misdiagnosis is not uncommon.
How Epidemiological Studies Can Help Improve Clinical Outcomes in Cystic Fibrosis
Medical researchers reported on epidemiological data concerning cystic fibrosis, yielding new insights on how to improve clinical outcomes.
Improving Outcomes in Alagille Syndrome Through Multidisciplinary Work
Multidisciplinary cooperation is a key part of treating Alagille syndrome, which can affect various systems in the body.
The Power of Inhibiting the Complement System in Cold Agglutinin Disease
The inhibition of the complement system in cold agglutinin disease has been shown to result in impressive clinical recovery.
How Hemophilia Continues to Affect Patients’ Quality of Life
Questionnaires assessing the quality of life of patients with hemophilia reveal that a large percentage of individuals struggle on a daily basis.
When Systemic Mastocytosis and Pregnancy Intersect
Pregnancy is a risk for clinical deterioration in systemic mastocytosis; conversely, systemic mastocytosis poses a risk to the fetus as well.
Examining Exon Skipping as a Gene Therapy Approach in DMD
Various research institutions are investing time and money to refine gene therapy as a viable treatment technique for patients with DMD.
Beyond Imatinib: Next-Generation TKIs for the Treatment of GIST
Recently developed TKIs such as ripretinib and avapritinib have the potential to change the treatment landscape of GIST.
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