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PReS-FINAL-2239: Renal AA amyloidosis in a child with hyper-IgD syndrome and a novel MVK mutationDOI 10.1186/1546-0096-11-s2-p229
AA amyloidosis and pyrin gene mutations.Semantic proximity
Hyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotypeSemantic proximity
Genetic aspects of amyloidosis.Semantic proximity
Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study.Semantic proximity
The evolving spectrum of kidney amyloidosis: advances in diagnosis, typing and treatmentSemantic proximity
Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East.Semantic proximity
Hereditary Amyloidosis: Insights Into a Fibrinogen A Variant Protein.Semantic proximity
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.Semantic proximity
Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation.Semantic proximity
The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture.Semantic proximity
Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvementSemantic proximity
New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosisSemantic proximity
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