Results 31 -
38
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38
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Bone inflammation disease
- ... Some individuals with prolidase deficiency have chronic lung disease.Characteristic facial features in people with prolidase deficiency ... P, Rivlin J, Falik-Zaccai TC. Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a ...
- ... with cutis laxa develop a life-long lung disease called emphysema, which can make it difficult to ... Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 ...
- ... Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clin ... signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Semin Ophthalmol. 2007 Oct-Dec;22(4):211- ...
- ... decline in intellectual function and a more rapid disease progression. Individuals with this form begin to lose ... adulthood, and their intelligence is not affected. Heart disease and airway obstruction are major causes of death ...
- ... some people with a mutated gene develop the disease and other people with the mutated gene do ... treatment, and place relative to other periodic joint diseases. Joint Bone Spine. 2004 Jul;71(4):284- ...
- ... Insulin resistance may develop into a more serious disease called diabetes mellitus. Most affected individuals also have ... Some affected individuals develop a form of heart disease called hypertrophic cardiomyopathy, which can lead to heart ...
- ... Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020 Dec 31;383( ...
- ... Gilfillan AM, Rivera J, Milner JD. Diminished allergic disease in patients with STAT3 mutations reveals a role ...