Ana Perdomo-Ramirez

5PUBLICATIONS
7CO-AUTHORS
Orthodontics and dentofacial orthopaedicsGenetics not elsewhere classifiedEpigenetics (incl. genome methylation and epigenomics)Medical biochemistry - inorganic elements and compounds
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Publications (5)

|Aug 10, 2024
4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1.

Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Jose David Machado

|Nov 25, 2023
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.

Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo

|Sep 28, 2023
New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.

Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Félix Claverie-Martín

|May 13, 2023
Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).

Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias

|Sep 02, 2020
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Alejandro García-Castaño, Ana Perdomo-Ramirez, Mònica Vall-Palomar

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Frequent Collaborators

5 joint publications

Felix Claverie-Martin

2 joint publications

Elena Ramos-Trujillo

1 joint publications

Alejandro García-Castaño

1 joint publications

Mònica Vall-Palomar