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Quoted phrase not found in phrase index: "Rare hereditary metabolic disease with peripheral neuropathy"
Page 1
Pathophysiology and Therapeutic Approaches to Cardiac Amyloidosis.
Griffin JM, Rosenblum H, Maurer MS. Griffin JM, et al. Circ Res. 2021 May 14;128(10):1554-1575. doi: 10.1161/CIRCRESAHA.121.318187. Epub 2021 May 13. Circ Res. 2021. PMID: 33983835 Free PMC article. Review.
Often considered a rare disease, cardiac amyloidosis is increasingly recognized by practicing clinicians. ...In this review, the mechanisms underlying the pathogenesis of cardiac amyloidosis due to light chain (AL) or transthyretin (ATTR) amyloidosis are delineated …
Often considered a rare disease, cardiac amyloidosis is increasingly recognized by practicing clinicians. ...In this review, t …
Phase 1 Trial of Antibody NI006 for Depletion of Cardiac Transthyretin Amyloid.
Garcia-Pavia P, Aus dem Siepen F, Donal E, Lairez O, van der Meer P, Kristen AV, Mercuri MF, Michalon A, Frost RJA, Grimm J, Nitsch RM, Hock C, Kahr PC, Damy T. Garcia-Pavia P, et al. N Engl J Med. 2023 Jul 20;389(3):239-250. doi: 10.1056/NEJMoa2303765. Epub 2023 May 20. N Engl J Med. 2023. PMID: 37212440 Clinical Trial.
BACKGROUND: Transthyretin amyloid (ATTR) cardiomyopathy is a progressive and fatal disease caused by misfolded transthyretin. Despite advances in slowing disease progression, there is no available treatment that depletes ATTR from the heart for the amelioration of c …
BACKGROUND: Transthyretin amyloid (ATTR) cardiomyopathy is a progressive and fatal disease caused by misfolded transthyretin. Despite …
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T; patisiran Global OLE study group. Adams D, et al. Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16. Lancet Neurol. 2021. PMID: 33212063 Clinical Trial.
BACKGROUND: Hereditary transthyretin-mediated amyloidosis is a rare, inherited, progressive disease caused by mutations in the transthyretin (TTR) gene. We assessed the safety and efficacy of long-term treatment with patisiran, an RNA interference therapeutic …
BACKGROUND: Hereditary transthyretin-mediated amyloidosis is a rare, inherited, progressive disease caused by mutations …
Liver-directed drugs for transthyretin-mediated amyloidosis.
Brannagan TH 3rd, Berk JL, Gillmore JD, Maurer MS, Waddington-Cruz M, Fontana M, Masri A, Obici L, Brambatti M, Baker BF, Hannan LA, Buchele G, Viney NJ, Coelho T, Nativi-Nicolau J. Brannagan TH 3rd, et al. J Peripher Nerv Syst. 2022 Dec;27(4):228-237. doi: 10.1111/jns.12519. Epub 2022 Nov 16. J Peripher Nerv Syst. 2022. PMID: 36345805 Free PMC article. Review.
Transthyretin-mediated amyloidosis (ATTR) is a rare, under-recognized, progressively debilitating, fatal disease caused by the aggregation and extracellular deposition of amyloid transthyretin (TTR) fibrils in multiple organs and tissues throughout the body. ...Addi …
Transthyretin-mediated amyloidosis (ATTR) is a rare, under-recognized, progressively debilitating, fatal disease caused by the …
Hereditary transthyretin amyloidosis: current treatment.
Adams D, Slama M. Adams D, et al. Curr Opin Neurol. 2020 Oct;33(5):553-561. doi: 10.1097/WCO.0000000000000852. Curr Opin Neurol. 2020. PMID: 32796279 Review.
PURPOSE OF REVIEW: Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant, life-threatening disease. ...Safety concerned ASO with a risk of thrombocytopenia. RNAi showed possible reversibility of the disease. Phase 3 ATTRACT trial …
PURPOSE OF REVIEW: Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant, life-threatening disease. …
Update review of the acute porphyrias.
Stein PE, Badminton MN, Rees DC. Stein PE, et al. Br J Haematol. 2017 Feb;176(4):527-538. doi: 10.1111/bjh.14459. Epub 2016 Dec 16. Br J Haematol. 2017. PMID: 27982422 Free article. Review.
Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. ...Severe attacks may be complicated by hyponatraemia, peripheral neuropathy sometimes causing paralysis, seizures and psychiatric features. ...
Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. ...Severe attacks may be complicated by …
Cardiac scintigraphy with 99mTc-diphosphonates in cardiac amyloidosis.
de Haro-Del Moral FJ, Pubul-Núñez V, Casáns-Tormo I, Jiménez-Heffernan A, Ruano-Pérez R. de Haro-Del Moral FJ, et al. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2020 Jul-Aug;39(4):254-266. doi: 10.1016/j.remn.2020.03.007. Epub 2020 Jun 6. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2020. PMID: 32513587 Review. English, Spanish.
Transthyretin cardiac amyloidosis (ATTR) has traditionally been considered a rare, difficult-to-diagnose and untreatable disease. However, its prevalence is known to be greater than what was previously thought, non-invasive diagnostic methods are available, and that …
Transthyretin cardiac amyloidosis (ATTR) has traditionally been considered a rare, difficult-to-diagnose and untreatable disease …
Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide, and CRISPR-Cas9 treatments.
Adams D, Algalarrondo V, Echaniz-Laguna A. Adams D, et al. Blood. 2023 Nov 9;142(19):1600-1612. doi: 10.1182/blood.2023019884. Blood. 2023. PMID: 37624911
Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant adult-onset disorder caused by point mutations in the transthyretin (TTR) gene encoding TTR, also known as prealbumin. ATTRv survival ranges from 3 to 10 years, and peripheral nervou …
Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant adult-onset disorder caused by point mutations in th …
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive spasticity and a variety of other neurological symptoms. ...These results raise awareness to this rare disease, facil …
ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by pro …
Evolving landscape in the management of transthyretin amyloidosis.
Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Hawkins PN, et al. Ann Med. 2015;47(8):625-38. doi: 10.3109/07853890.2015.1068949. Epub 2015 Nov 27. Ann Med. 2015. PMID: 26611723 Free PMC article. Review.
Although considered rare, the prevalence of this serious disease is likely underestimated because symptoms can be non-specific and diagnosis largely relies on amyloid detection in tissue biopsies. ...The evolving treatment landscape for ATTR amyloidosis brings hope …
Although considered rare, the prevalence of this serious disease is likely underestimated because symptoms can be non-specific …
71 results