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Quoted phrase not found in phrase index: "Rare hereditary metabolic disease with peripheral neuropathy"
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Hereditary transthyretin-related amyloidosis.
Finsterer J, Iglseder S, Wanschitz J, Topakian R, Löscher WN, Grisold W. Finsterer J, et al. Acta Neurol Scand. 2019 Feb;139(2):92-105. doi: 10.1111/ane.13035. Epub 2018 Oct 23. Acta Neurol Scand. 2019. PMID: 30295933
Hereditary transthyretin(TTR)-related amyloidosis (ATTRm amyloidosis) is an endemic/non-endemic, autosomal-dominant, early- and late-onset, rare, progressive disorder, predominantly manifesting as length-dependent, small fiber dominant, axonal polyneuropathy and fre …
Hereditary transthyretin(TTR)-related amyloidosis (ATTRm amyloidosis) is an endemic/non-endemic, autosomal-dominant, early- and late- …
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
He X, Tian Z, Guan H, Zhang S. He X, et al. Orphanet J Rare Dis. 2022 Sep 2;17(1):337. doi: 10.1186/s13023-022-02481-9. Orphanet J Rare Dis. 2022. PMID: 36056432 Free PMC article.
BACKGROUND: Hereditary transthyretin amyloidosis (hATTR) is a progressive and fatal disease with heterogenous clinical presentations, limited diagnosis and poor prognosis. ...The second and third most common genotypes were Val30Met (20, 15.9%) and Val30Ala (10, 7.9% …
BACKGROUND: Hereditary transthyretin amyloidosis (hATTR) is a progressive and fatal disease with heterogenous clinical present …