Upshaw-Schulman Syndrome.
Ahmad R, Natiq M, Aziz M.
J Coll Physicians Surg Pak. 2015 Oct;25 Suppl 2:S97-9. doi: 10.2015/JCPSP.S9799.
Hereditary TTP/Upshaw-Schulman syndrome: the ductus arteriosus controls newborn survival.
Fujimura Y.
Int J Hematol. 2024 May;119(5):532-540. doi: 10.1007/s12185-024-03731-1. Epub 2024 Mar 27.
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.
Pérez-Rodríguez A, Lourés E, Rodríguez-Trillo Á, Costa-Pinto J, García-Rivero A, Batlle-López A, Batlle J, López-Fernández MF.
Thromb Res. 2014 Dec;134(6):1171-5. doi: 10.1016/j.thromres.2014.09.004. Epub 2014 Sep 10.
Hereditary Thrombotic Thrombocytopenic Purpura.
Nusrat S, Beg K, Khan O, Sinha A, George J.
Genes (Basel). 2023 Oct 18;14(10):1956. doi: 10.3390/genes14101956.
Thrombotic thrombocytopenic purpura.
Kremer Hovinga JA, Coppo P, Lämmle B, Moake JL, Miyata T, Vanhoorelbeke K.
Nat Rev Dis Primers. 2017 Apr 6;3:17020. doi: 10.1038/nrdp.2017.20.
Upshaw-Schulman Syndrome With c.2728C>T Mutation in ADAMTS13 Gene.
Resham S, Fadoo Z, Moiz B.
J Pediatr Hematol Oncol. 2019 Jan;41(1):e60-e62. doi: 10.1097/MPH.0000000000001226.
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation.
Letzer A, Lehmann K, Mess C, König G, Obser T, Peine S, Schneppenheim S, Budde U, Schneider SW, Schneppenheim R, Brehm MA.
PLoS One. 2020 May 4;15(5):e0232637. doi: 10.1371/journal.pone.0232637. eCollection 2020.
Upshaw-Schulman Syndrome with a Novel Deletion in Exon 17 of ADAMTS 13 Gene.
John BM, Kumar S, Saxena A.
Indian J Pediatr. 2022 Apr;89(4):402-403. doi: 10.1007/s12098-021-04047-2. Epub 2022 Jan 23.
Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.
Fujimura Y, Matsumoto M, Isonishi A, Yagi H, Kokame K, Soejima K, Murata M, Miyata T.
J Thromb Haemost. 2011 Jul;9 Suppl 1:283-301. doi: 10.1111/j.1538-7836.2011.04341.x.
Upshaw-Schulman Syndrome: Novel homozygous missense mutation.
Sarmiento H, Pomares IM, Manresa PM, Castaño FL, Hernandez LM, Marco P.
Thromb Res. 2017 Oct;158:83-85. doi: 10.1016/j.thromres.2017.08.013. Epub 2017 Aug 23.
