Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

Sulfate is the fourth most abundant anion in human plasma but is not measured in clinical practice and little is known about the consequences of sulfate deficiency. Nevertheless, sulfation plays an essential role in the modulation of numerous compounds, including proteoglycans and steroids. We repor...

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Detalles Bibliográficos
Autores principales: van de Kamp, Jiddeke M., Bökenkamp, Arend, Smith, Desiree E. C., Wamelink, Mirjam M. C., Jansen, Erwin E. W., Struys, Eduard A., Waisfisz, Quinten, Verkleij, Marieke, Hartmann, Michaela F., Wang, Rong, Wudy, Stefan A., Paganini, Chiara, Rossi, Antonio, Finken, Martijn J. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092256/
https://www.ncbi.nlm.nih.gov/pubmed/36175384
http://dx.doi.org/10.1111/cge.14239

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