 Hyperoxaluria, Primary
"Hyperoxaluria, Primary" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism.
| Descriptor ID |
D006960
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| MeSH Number(s) |
C12.777.419.313.500 C13.351.968.419.313.500 C16.320.565.202.460 C18.452.648.202.460
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| Concept/Terms |
Hyperoxaluria, Primary- Hyperoxaluria, Primary
- Hyperoxalurias, Primary
- Primary Hyperoxalurias
- Primary Hyperoxaluria
- Primary Oxaluria
- Oxaluria, Primary
- Oxalurias, Primary
- Primary Oxalurias
Primary Oxalosis- Primary Oxalosis
- Oxaloses, Primary
- Oxalosis, Primary
- Primary Oxaloses
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Below are MeSH descriptors whose meaning is more general than "Hyperoxaluria, Primary".
- Diseases [C]
- Male Urogenital Diseases [C12]
- Urologic Diseases [C12.777]
- Kidney Diseases [C12.777.419]
- Hyperoxaluria [C12.777.419.313]
- Hyperoxaluria, Primary [C12.777.419.313.500]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urologic Diseases [C13.351.968]
- Kidney Diseases [C13.351.968.419]
- Hyperoxaluria [C13.351.968.419.313]
- Hyperoxaluria, Primary [C13.351.968.419.313.500]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Hyperoxaluria, Primary [C16.320.565.202.460]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Hyperoxaluria, Primary [C18.452.648.202.460]
Below are MeSH descriptors whose meaning is more specific than "Hyperoxaluria, Primary".
This graph shows the total number of publications written about "Hyperoxaluria, Primary" by people in this website by year, and whether "Hyperoxaluria, Primary" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2000 | 2 | 0 | 2 | | 2006 | 1 | 0 | 1 | | 2007 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2009 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2022 | 1 | 0 | 1 | | 2023 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Hyperoxaluria, Primary" by people in Profiles.
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Tasian GE, Dickinson K, Park G, Marchesani N, Mittal A, Cheng N, Ching CB, Chu DI, Walton R, Yonekawa K, Gluck C, Muneeruddin S, Kan KM, DeFoor W, Rove K, Forrest CB. Distinguishing characteristics of pediatric patients with primary hyperoxaluria type 1 in PEDSnet. J Pediatr Urol. 2024 02; 20(1):88.e1-88.e9.
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Tasian G, Dickinson K, Karafilidis J, Marchesani N, Antunes N, Razzaghi H, Utidjian L, Yonekawa K, Coplen D, Muneeruddin S, DeFoor B, Rove KO, Forrest C, Ching C. Diagnostic Code-Based Screening for Identifying Children with Primary Hyperoxaluria. J Urol. 2022 10; 208(4):898-905.
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Shah VN, Pyle L. Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. N Engl J Med. 2021 11 11; 385(20):e69.
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Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO. d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. Mol Genet Metab. 2017 06; 121(2):80-82.
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Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC. Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. J Am Soc Nephrol. 2015 Oct; 26(10):2559-70.
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Lage MD, Pittman AM, Roncador A, Cellini B, Tucker CL. Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria. PLoS One. 2014; 9(4):e94338.
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Levin-Iaina N, Dinour D, Romero L, Ron R, Brady RL, Cramer SD, Holtzman EJ. Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. J Urol. 2009 May; 181(5):2146-51.
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Hopper ED, Pittman AM, Fitzgerald MC, Tucker CL. In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase. J Biol Chem. 2008 Nov 07; 283(45):30493-502.
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Takayama T, Nagata M, Ozono S, Nonomura K, Cramer SD. A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. Nephrol Dial Transplant. 2007 Aug; 22(8):2371-4.
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Knight J, Holmes RP, Milliner DS, Monico CG, Cramer SD. Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. Nephrol Dial Transplant. 2006 Aug; 21(8):2292-5.
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