Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
Renal hypouricemia (RHUC) is caused by an inherited defect in the main reabsorption system of uric acid, <i>SLC22A12</i> (URAT1) and <i>SLC2A9</i> (GLUT9). RHUC is characterized by a decreased serum uric acid concentration and an increase in its excreted fraction. Patients su...
Saved in:
Main Authors: | Blanka Stiburkova, Jana Bohatá, Kateřina Pavelcová, Velibor Tasic, Dijana Plaseska-Karanfilska, Sung-Kweon Cho, Ludmila Potočnaková, Jana Šaligová |
---|---|
Format: | article |
Language: | EN |
Published: |
MDPI AG
2021
|
Subjects: | |
Online Access: | https://doaj.org/article/f04b0b6447f749a39a7891cde2aa2bed |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder
by: Tanya L. Brown, et al.
Published: (2021) -
Pharmacogenetic Aspects of Type 2 Diabetes Treatment
by: N. O. Pozdnyakov, et al.
Published: (2020) -
Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic <i>GLUT2</i> (<i>SLC2A2</i>) Variants
by: Sarah C. Grünert, et al.
Published: (2021) -
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
by: Yiming Lin, et al.
Published: (2021) -
COVID-19 water and electricity subsidies in Ghana: How do the poor benefit?
by: Richard Kwabena Nkrumah, et al.
Published: (2021)