Preeclampsia and eclampsia: the conceptual evolution of a syndrome.
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Maple Syrup Urine Disease.
Strauss KA, Puffenberger EG, Carson VJ.
2006 Jan 30 [updated 2020 Apr 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Portal vein thrombosis: diagnosis, management, and endpoints for future clinical studies.
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Lancet Gastroenterol Hepatol. 2024 Sep;9(9):859-883. doi: 10.1016/S2468-1253(24)00155-9. Epub 2024 Jul 9.
Polycystic Kidney Disease, Autosomal Dominant.
Harris PC, Torres VE.
2002 Jan 10 [updated 2022 Sep 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Glycogen Storage Disease Type I.
Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS.
2006 Apr 19 [updated 2021 Oct 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Pharmacokinetics and pharmacodynamics of the nitroimidazole antimicrobials.
Lamp KC, Freeman CD, Klutman NE, Lacy MK.
Clin Pharmacokinet. 1999 May;36(5):353-73. doi: 10.2165/00003088-199936050-00004.
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, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Wilson Disease.
Weiss KH, Schilsky M.
1999 Oct 22 [updated 2023 Jan 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
ZAP70-Related Combined Immunodeficiency.
Walkovich K, Vander Lugt M.
2009 Oct 20 [updated 2021 Sep 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2025.
Gordon CE, Garimella PS, Perrone RD, Miskulin DC.
Am J Kidney Dis. 2025 Oct;86(4):525-542. doi: 10.1053/j.ajkd.2025.05.010. Epub 2025 Aug 22.
