Renal Hypouricemia
What's New
Last Posted: Aug 14, 2024
- Unmasking the silent culprit: recurrent exercise-induced acute kidney injury in a Chinese adolescent with renal hypouricemia.
Yuan Gao, et al. Renal failure 2024 0 (2) 2373271 - Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.
Lijun Mou, et al. Molecular diagnosis & therapy 2023 0 - 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, et al. International journal of molecular sciences 2023 0 (9) - A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
Vidanapathirana Dinesha Maduri, et al. BMC pediatrics 2018 0 (1) 210 - Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.
Stiburkova Blanka, et al. Biomedicines 2021 0 (11) - Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.
Cha Do Hyeon, et al. Scientific reports 2019 10 (1) 14360 - Hereditary xanthinuria is not so rare disorder of purine metabolism.
Sebesta I et al. Nucleosides, nucleotides & nucleic acids 2018 37(6) 324-328 - The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.
Sakiyama Masayuki, et al. Scientific reports 2016 0 20148 - High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.
Gabrikova Dana, et al. Urolithiasis 2015 10 (5) 441-5 - Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.
Hurba Olha, et al. PloS one 2014 0 (9) e107902
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: