Elevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study

INTRODUCTION: Patients with hepatocyte nuclear factor-1 beta (HNF1B) mutations present a variable phenotype with two main symptoms: maturity onset diabetes of the young (MODY) and polycystic kidney disease (PKD). OBJECTIVES: Identification of serum metabolites specific for HNF1Bmut and evaluation of...

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Detalles Bibliográficos
Autores principales: Małachowska, Beata, Janikiewicz, Justyna, Pietrowska, Karolina, Wyka, Krystyna, Madzio, Joanna, Wypyszczak, Kamila, Tkaczyk, Marcin, Chrul, Sławomir, Zwiech, Rafał, Hogendorf, Anna, Małecki, Maciej T., Borowiec, Maciej, Krętowski, Adam, Młynarski, Wojciech, Dobrzyń, Agnieszka, Ciborowski, Michał, Fendler, Wojciech
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857088/
https://www.ncbi.nlm.nih.gov/pubmed/35179657
http://dx.doi.org/10.1007/s11306-022-01873-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857088/
https://www.ncbi.nlm.nih.gov/pubmed/35179657
http://dx.doi.org/10.1007/s11306-022-01873-z

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