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Elevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study.
Małachowska B, Janikiewicz J, Pietrowska K, Wyka K, Madzio J, Wypyszczak K, Tkaczyk M, Chrul S, Zwiech R, Hogendorf A, Małecki MT, Borowiec M, Krętowski A, Młynarski W, Dobrzyń A, Ciborowski M, Fendler W. Małachowska B, et al. Among authors: malecki mt. Metabolomics. 2022 Feb 18;18(3):15. doi: 10.1007/s11306-022-01873-z. Metabolomics. 2022. PMID: 35179657 Free PMC article.
Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.
Klupa T, Kowalska I, Wyka K, Skupien J, Patch AM, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, Sieradzki J, Mlynarski W, Malecki MT. Klupa T, et al. Among authors: malecki mt. Clin Endocrinol (Oxf). 2009 Sep;71(3):358-62. doi: 10.1111/j.1365-2265.2008.03478.x. Epub 2008 Nov 18. Clin Endocrinol (Oxf). 2009. PMID: 19021632
277 results