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Genes associated with genetic and rare lung diseases and the risk of lung cancer.
Social and medical needs of rare metabolic patients: results from a MetabERN survey.
The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson's disease.
Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency.
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.