Uncovering genetic causes of hypophosphatemia
Puente‐Ruiz, Nuria, Docio, Pablo, Unzueta, María T. García, Lavín, Bernardo A., Maiztegi, Ainhoa, Vega, Ana Isabel, Piedra, María, Riancho‐Zarrabeitia, Leyre, Mateos, Fátima, Gonzalez‐Lamuño, Domingo, Valero, Carmen, Riancho, José A.
Published in Journal of internal medicine (01.06.2023)
Published in Journal of internal medicine (01.06.2023)
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Journal Article
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations
Puente-Ruiz, Nuria, Ellis, Ian, Bregu, Marsel, Chen, Cliff, Church, Heather J., Tylee, Karen L., Gladston, Shalini, Hackett, Richard, Oldham, Andrew, Virk, Surinder, Hendriksz, Christian, Morris, Andrew A.M., Jones, Simon A., Stepien, Karolina M.
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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Journal Article
Etiology of hypophosphatemia in adults
Puente Ruiz, Nuria, Valero Díaz de Lamadrid, M Carmen, Riancho, José A
Published in Medicina clinica (17.07.2024)
Published in Medicina clinica (17.07.2024)
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Journal Article
Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations
Puente-Ruiz, Nuria, Ellis, Ian, Bregu, Marsel, Chen, Cliff, Church, Heather J, Tylee, Karen L, Gladston, Shalini, Hackett, Richard, Oldham, Andrew, Virk, Surinder, Hendriksz, Christian, Morris, Andrew A M, Jones, Simon A, Stepien, Karolina M
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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