Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
Summary: Background: Hereditary Multiple Exostoses (HME) is a rare autosomal disorder characterized by the presence of multiple exostoses (osteochondromas) caused by a heterozygous loss of function mutation in EXT1 or EXT2; genes involved in heparan sulfate (HS) chain elongation. Considering that H...
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Autores principales: | Jetta J. Oppelaar, Nienke M.G. Rorije, Rik H.G. Olde Engberink, Youssef Chahid, Naomi van Vlies, Hein J. Verberne, Bert-Jan H. van den Born, Liffert Vogt |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/1b5e608388c14cb5bbc53ed9c120bcdb |
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