Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387366018> ?p ?o ?g. }
- W4387366018 abstract "Amyloidoses represent a group of diseases characterized by the pathological accumulation in the extracellular area of insoluble misfolded protein material called “amyloid”. The damage to the tissue organization and the direct toxicity of the amyloidogenic substrates induce progressive dysfunctions in the organs involved. They are usually multisystem diseases involving several vital organs, such as the peripheral nerves, heart, kidneys, gastrointestinal tract, liver, skin, and eyes. Transthyretin amyloidosis (ATTR) is related to abnormalities of transthyretin (TTR), a protein that acts as a transporter of thyroxine and retinol and is produced predominantly in the liver. ATTR is classified as hereditary (ATTRv) and wild type (ATTRwt). ATTRv is a severe systemic disease of adults caused by mutations in the TTR gene and transmitted in an autosomal dominant manner with incomplete penetrance. Some pathogenic variants in TTR are preferentially associated with a neurological phenotype (progressive peripheral sensorimotor polyneuropathy); others are more frequently associated with restrictive heart failure. However, many mutations express a mixed phenotype with neurological and cardiological involvement. ATTRv is now a treatable disease. A timely and definite diagnosis is essential in view of the availability of effective therapies that have revolutionized the management of affected patients. The purpose of this review is to familiarize the clinician with the disease and with the correct diagnostic pathways in order to obtain an early diagnosis and, consequently, the possibility of an adequate treatment." @default.
- W4387366018 created "2023-10-06" @default.
- W4387366018 creator A5004228121 @default.
- W4387366018 creator A5023490483 @default.
- W4387366018 creator A5028523408 @default.
- W4387366018 creator A5039173551 @default.
- W4387366018 creator A5041653062 @default.
- W4387366018 creator A5046466513 @default.
- W4387366018 creator A5058148069 @default.
- W4387366018 creator A5060195057 @default.
- W4387366018 date "2023-10-05" @default.
- W4387366018 modified "2023-10-16" @default.
- W4387366018 title "Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy" @default.
- W4387366018 cites W1518030473 @default.
- W4387366018 cites W1555692677 @default.
- W4387366018 cites W1558011912 @default.
- W4387366018 cites W1568589356 @default.
- W4387366018 cites W1903745637 @default.
- W4387366018 cites W1974607752 @default.
- W4387366018 cites W1979219069 @default.
- W4387366018 cites W1979634011 @default.
- W4387366018 cites W1980144587 @default.
- W4387366018 cites W1986782676 @default.
- W4387366018 cites W2006880043 @default.
- W4387366018 cites W2009082034 @default.
- W4387366018 cites W2011246655 @default.
- W4387366018 cites W2013723355 @default.
- W4387366018 cites W2014789039 @default.
- W4387366018 cites W2017427772 @default.
- W4387366018 cites W2020601607 @default.
- W4387366018 cites W2026704636 @default.
- W4387366018 cites W2033060908 @default.
- W4387366018 cites W2038935930 @default.
- W4387366018 cites W2038994465 @default.
- W4387366018 cites W2041138673 @default.
- W4387366018 cites W2046042617 @default.
- W4387366018 cites W2046723490 @default.
- W4387366018 cites W2056968633 @default.
- W4387366018 cites W2060624358 @default.
- W4387366018 cites W2071924020 @default.
- W4387366018 cites W2073748381 @default.
- W4387366018 cites W2082701484 @default.
- W4387366018 cites W2084698716 @default.
- W4387366018 cites W2092793256 @default.
- W4387366018 cites W2095232042 @default.
- W4387366018 cites W2100606478 @default.
- W4387366018 cites W2102574907 @default.
- W4387366018 cites W2104156336 @default.
- W4387366018 cites W2112446184 @default.
- W4387366018 cites W2112724119 @default.
- W4387366018 cites W2114075554 @default.
- W4387366018 cites W2115716349 @default.
- W4387366018 cites W2115862827 @default.
- W4387366018 cites W2118369819 @default.
- W4387366018 cites W2123848452 @default.
- W4387366018 cites W2124673510 @default.
- W4387366018 cites W2125488554 @default.
- W4387366018 cites W2125511990 @default.
- W4387366018 cites W2126501528 @default.
- W4387366018 cites W2131985661 @default.
- W4387366018 cites W2131999691 @default.
- W4387366018 cites W2132690375 @default.
- W4387366018 cites W2132750428 @default.
- W4387366018 cites W2133791055 @default.
- W4387366018 cites W2134899987 @default.
- W4387366018 cites W2137399373 @default.
- W4387366018 cites W2138152279 @default.
- W4387366018 cites W2140695148 @default.
- W4387366018 cites W2147646431 @default.
- W4387366018 cites W2148373528 @default.
- W4387366018 cites W2148937629 @default.
- W4387366018 cites W2152433331 @default.
- W4387366018 cites W2156264261 @default.
- W4387366018 cites W2158907165 @default.
- W4387366018 cites W2166635902 @default.
- W4387366018 cites W2199765595 @default.
- W4387366018 cites W2212415077 @default.
- W4387366018 cites W2275023882 @default.
- W4387366018 cites W2295890540 @default.
- W4387366018 cites W2297947990 @default.
- W4387366018 cites W2313431976 @default.
- W4387366018 cites W2314304229 @default.
- W4387366018 cites W2337532627 @default.
- W4387366018 cites W2397692523 @default.
- W4387366018 cites W2405319848 @default.
- W4387366018 cites W2411080321 @default.
- W4387366018 cites W2544911416 @default.
- W4387366018 cites W2546587322 @default.
- W4387366018 cites W2551198464 @default.
- W4387366018 cites W2586100969 @default.
- W4387366018 cites W2605412855 @default.
- W4387366018 cites W2606290957 @default.
- W4387366018 cites W2624652407 @default.
- W4387366018 cites W2666433205 @default.
- W4387366018 cites W2739898475 @default.
- W4387366018 cites W2754985235 @default.
- W4387366018 cites W2774176529 @default.
- W4387366018 cites W2788969046 @default.
- W4387366018 cites W2794689400 @default.
- W4387366018 cites W2808520291 @default.