Primary Hyperoxaluria Type 3
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Last Posted: Jan 27, 2024
- Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.
Pavla Vankova, et al. FEBS letters 2024 0 - Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Elisabeth L Metry, et al. Kidney international reports 2023 0 (10) 2029-2042 - HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships.
Yucheng Ge, et al. World journal of urology 2023 0 - siRNAs-A New Class of Medicines.
Anastasia Khvorova et al. JAMA 2023 6 - Kidney cysts in patients with HOGA1 variants.
Patel Dipal M, et al. Clinical nephrology 2023 0 - Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du Dun-Feng, et al. Current medical science 2018 0 (5) 749-757 - [Inherited kidney stones: A nephrology center experience].
Kaaroud H, et al. Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie 2019 0 (16) 962-973 - Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.
Bar Roi, et al. The Journal of urology 2020 0 (5) 1394-1399 - Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Zhao Fangzhou, et al. Urolithiasis 2020 0 (1) 17-25 - Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
Murad Hossam, et al. BMC medical genomics 2021 0 (1) 146 - Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
Abid Aiysha, et al. Molecular biology reports 2021 0 (4) 3841-3844 - Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis.
Fatima Abdouss, et al. Cureus 2022 0 (3) e23616 - AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Boualla Lamiae, et al. Genetic testing and molecular biomarkers 2015 9 - Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Mandrile Giorgia, et al. Kidney international 2014 12 (6) 1197-204 - SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype.
Coulter-Mackie Marion B, et al. Biochemical genetics 2015 4 (1-3) 23-8 - Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
Takayama T, et al. Clinical genetics 2014 10 (4) 342-8 - Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Monico Carla G, et al. Clinical journal of the American Society of Nephrology : CJASN 2011 9 (9) 2289-95 - Primary hyperoxaluria type 1
From NCATS Genetic and Rare Diseases Information Center - Primary hyperoxaluria type 2
From NCATS Genetic and Rare Diseases Information Center - Primary hyperoxaluria type 3
From NCATS Genetic and Rare Diseases Information Center - Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
Harambat Jérôme, et al. Kidney international 2010 3 (5) 443-9 - Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.
Levin-Iaina Nomy, et al. The Journal of urology 2009 5 (5) 2146-51 - Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
Williams Emma, et al. Clinical chemistry 2007 7 (7) 1216-21 - Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Rumsby Gill, et al. Kidney international 2004 9 (3) 959-63 - AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.
Amoroso A, et al. Journal of the American Society of Nephrology : JASN 2001 10 (10) 2072-9
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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
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