Mutations in DHDPSL are responsible for primary hyperoxaluria type III - Wikidata - awgldk - TriplyDB

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

http://www.wikidata.org/entity/Q24297629

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Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis Chronic kidney disease in kidney stone formers NADPH oxidase as a therapeutic target for oxalate induced injury in kidneys Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.Hereditary causes of kidney stones and chronic kidney disease Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria.Clinical review. Kidney stones 2012: pathogenesis, diagnosis, and management.Glyoxylate, a new marker metabolite of type 2 diabetes.Exploring the genetic basis of early-onset chronic kidney disease.Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter 4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3 Kidney stones in primary hyperoxaluria: new lessons learnt.Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing Primary hyperoxaluria.Primary and secondary hyperoxaluria: Understanding the enigma Metabolism of [13C5]hydroxyproline in vitro and in vivo: implications for primary hyperoxaluria.Current medical treatment in pediatric urolithiasis Surgical management of stone disease in patients with primary hyperoxaluria.Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition Urolithiasis in children: medical approach Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3 Primary Hyperoxaluria Diagnosed Based on Bone Marrow Biopsy in Pancytopenic Adult with End Stage Renal Disease Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure.Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia.Kidney stones: an update on current pharmacological management and future directions.Genetic determinants of urolithiasis.Pediatric urolithiasis: causative factors, diagnosis and medical management.An update on primary hyperoxaluria.Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.Update on oxalate crystal disease.Primary hyperoxalurias: diagnosis and treatment.Bone impairment in primary hyperoxaluria: a review.Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.Dihydrodipicolinate Synthase: Structure, Dynamics, Function, and Evolution.Primary hyperoxaluria type III--a model for studying perturbations in glyoxylate metabolism.

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Mutations in DHDPSL are responsible for primary hyperoxaluria type III

http://www.wikidata.org/entity/Q24297629

description

2010 nî lūn-bûn

@nan

2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

@zh-hk

2010年論文

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2010年論文

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2010年论文

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name

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

@ast

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

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Mutations in DHDPSL are responsible for primary hyperoxaluria type III

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type

label

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

@ast

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

@en

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

@nl

prefLabel

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

@ast

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

@en

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

@nl

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J.AJHG.2010.07.023

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American Journal of Human Genetics

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Mutations in DHDPSL are responsible for primary hyperoxaluria type III

@en

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Carla G Monico

http://www.w3.org/2001/XMLSchema#string

Celine Charon

http://www.w3.org/2001/XMLSchema#string

Choni Rinat

http://www.w3.org/2001/XMLSchema#string

Daniella Magen

http://www.w3.org/2001/XMLSchema#string

Dawn S Milliner

http://www.w3.org/2001/XMLSchema#string

Efrat Ben-Shalom

http://www.w3.org/2001/XMLSchema#string

Eric Seboun

http://www.w3.org/2001/XMLSchema#string

Gregory H Idelson

http://www.w3.org/2001/XMLSchema#string

Irith Weissman

http://www.w3.org/2001/XMLSchema#string

Rachel Becker-Cohen

http://www.w3.org/2001/XMLSchema#string

P2860

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data.

The semi-phosphorylative Entner-Doudoroff pathway in hyperthermophilic archaea: a re-evaluation.

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.

Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis

DL-2-keto-4-hydroxyglutarate-1.

Understanding enzyme superfamilies. Chemistry As the fundamental determinant in the evolution of new catalytic activities.

Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.

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392-9

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scholarly article

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10.1016/J.AJHG.2010.07.023

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3

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2010-09-10T00:00:00Z

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46008926

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20797690

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glyoxylate catabolic process

4-hydroxy-2-oxoglutarate aldolase 1

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2933339

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