| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8309610 | Clinica Chimica Acta | 2018 | 34 Pages |
Abstract
The biochemical and clinical features of our patients together with the genetic analysis results confirmed the diagnosis of RHUC. This is the first report describing SLC22A12 and SLC2A9 mutations in Spanish patients.
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Authors
Felix Claverie-Martin, Jorge Trujillo-Suarez, Hilaria Gonzalez-Acosta, Cristina Aparicio, Maria L. Justa Roldan, Blanka Stiburkova, Kimiyoshi Ichida, Maria A. MartÃn-Gomez, Maria Herrero Goñi, Marta Carrasco Hidalgo-Barquero, Victoria Iñigo,