The nonprofit Team Joseph raises money for scientific studies, but also looks for immediate gaps or needs not being met by other patient organizations.
Oral manifestations of Alagille syndrome, such as the greenish discoloration of the teeth, can be psychologically distressing to patients.
Artificial intelligence has been shown to have good predictive value for the malignant potential of gastrointestinal stromal tumors.
A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder.
A pulmonary fibrosis foundation and a professional medical association have teamed up to slash the time it takes to diagnose idiopathic pulmonary fibrosis.
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.
An updated set of clinical practice guidelines has been issued for the diagnosis and treatment of idiopathic pulmonary fibrosis in adults.
Researchers are conducting research into DMD on multiple fronts, including identifying crucial biomarkers to track disease progression.
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