[Gene therapy options for hereditary transthyretin-related amyloidosis].
Sign Up to like & getrecommendations! Published in 2022 at "Der Nervenarzt"
DOI: 10.1007/s00115-022-01288-0
Abstract: Hereditary transthyretin-related amyloidosis (ATTRv) is a rare autosomal dominant disease and is fatal if left untreated. It is caused by mutations in the transthyretin gene. All known mutations induce misfolding of the tetrameric transthyretin molecule and… read more here.
Keywords: treatment; transthyretin related; hereditary transthyretin; gene ... See more keywords
Autologous Stem Cell Transplant for IgM Related AL Amyloidosis
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DOI: 10.1016/j.bbmt.2018.12.798
Abstract: IgM related AL amyloidosis is a rare disease with patients presenting with more renal and neurological involvement and less cardiac involvement compared to those with non-IgM related disease. We retrospectively reviewed 38 patients receiving autologous… read more here.
Keywords: response; autologous stem; igm related; organ response ... See more keywords
Hemodialysis‐related amyloidosis: Is it still relevant?
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DOI: 10.1111/sdi.12720
Abstract: Accumulation of amyloid fibrils from β2‐microglobulin (β2M) was first recognized as a characteristic osteoarticular complication in long‐term hemodialysis (HD) patients and called “HD‐related amyloidosis” (HRA). However, this syndrome can also be observed in end‐stage renal… read more here.
Keywords: related amyloidosis; hemodialysis related; amyloidosis still; dra ... See more keywords
Severe Destructive Tendinopathy in the Wrist Due to Dialysis-Related Amyloidosis.
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DOI: 10.1142/s0218810417720273
Abstract: Dialysis-related amyloidosis (DRA) is a specific subtype of amyloidosis with several clinical presentations. Herein we report a case of severe destructive tendinopathy around the wrist associated with long-standing hemodialysis (HD). A 63-year-old female patient who… read more here.
Keywords: wrist; related amyloidosis; severe destructive; mass ... See more keywords