Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management.
Tefferi A, Barbui T.
Am J Hematol. 2023 Sep;98(9):1465-1487. doi: 10.1002/ajh.27002. Epub 2023 Jun 26.
Clinical Presentations and Epidemiology of Urinary Tract Infections.
Geerlings SE.
Microbiol Spectr. 2016 Oct;4(5). doi: 10.1128/microbiolspec.UTI-0002-2012.
Evolution of biotechnological advances and regenerative therapies for endometrial disorders: a systematic review.
Rodríguez-Eguren A, Bueno-Fernandez C, Gómez-Álvarez M, Francés-Herrero E, Pellicer A, Bellver J, Seli E, Cervelló I.
Hum Reprod Update. 2024 Oct 1;30(5):584-613. doi: 10.1093/humupd/dmae013.
Therapies in Stiff-Person Syndrome: Advances and Future Prospects Based on Disease Pathophysiology.
Dalakas MC.
Neurol Neuroimmunol Neuroinflamm. 2023 Apr 14;10(3):e200109. doi: 10.1212/NXI.0000000000200109. Print 2023 May.
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C.
Orphanet J Rare Dis. 2024 Jan 20;19(1):20. doi: 10.1186/s13023-024-03021-3.
FLNB Disorders.
Robertson S.
2008 Oct 9 [updated 2020 Feb 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Mucopolysaccharidosis Type I.
Clarke LA.
2002 Oct 31 [updated 2024 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
X-Linked Protoporphyria.
Balwani M, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
2013 Feb 14 [updated 2019 Nov 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Aspirin therapy is associated with a lower risk of pregnancy loss in both JAK2- and CALR-mutated essential thrombocythemia-A Mayo Clinic study of 200 pregnancies.
Gangat N, Singh A, Ilyas R, Loscocco GG, Elliott M, Begna K, Pardanani A, Tefferi A.
Am J Hematol. 2024 Oct;99(10):1862-1869. doi: 10.1002/ajh.27416. Epub 2024 Jun 12.
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D.
Am J Hum Genet. 2007 May;80(5):895-910. doi: 10.1086/517616. Epub 2007 Apr 6.
