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Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R. Muhammad E, et al. Among authors: jacoby h. Hum Genet. 2011 Apr;129(4):397-405. doi: 10.1007/s00439-010-0930-4. Epub 2010 Dec 24. Hum Genet. 2011. PMID: 21184099
Watchful Waiting After Radiological Guided Drainage of Intra-abdominal Abscess in Patients With Crohn's Disease Might Be Associated With Increased Rates of Stoma Construction.
El-Hussuna A, Steenholdt C, Merrild Karer ML, Nyggard Uldall Nielsen N, Mujukian A, Fleshner PR, Iesalnieks I, Horesh N, Kopylov U, Jacoby H, Al-Qaisi HM, Colombo F, Sampietro GM, Marino MV, Ellebæk M, Sørensen N, Celentano V, Ladwa N, Warusavitarne J, Pellino G, Zeb A, Di Candido F, Hurtado-Pardo L, Frasson M, Kunovsky L, Yalcinkaya A, Alonso S, Pera M, Rodríguez CA, Bravo AM, Granero AG, Tatar OC, Spinelli A, Qvist N. El-Hussuna A, et al. Among authors: jacoby h. Crohns Colitis 360. 2023 Jul 19;5(3):otad038. doi: 10.1093/crocol/otad038. eCollection 2023 Jul. Crohns Colitis 360. 2023. PMID: 37636010 Free PMC article.
133 results