Recent advances in the identification and management of inherited hyperoxalurias

scientific article published on 10 December 2018

Recent advances in the identification and management of inherited hyperoxalurias is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S00240-018-1093-3
P698PubMed publication ID30535828

P2093author name stringPeter C Harris
Dawn S Milliner
David J Sas
P2860cites workThe gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type IIQ22010369
Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type IIIQ24297629
Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1Q24306643
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasisQ24337342
Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluriaQ30403926
Endourologic treatment of nephrocalcinosisQ30657246
Hereditary causes of kidney stones and chronic kidney diseaseQ34066169
Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria.Q34175404
Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.Q34407663
A preliminary account of the properties of recombinant human Glyoxylate reductase (GRHPR), LDHA and LDHB with glyoxylate, and their potential roles in its metabolismQ34455891
Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with OxalobacterQ34719077
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcomeQ35051564
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.Q35124270
Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplantQ35977167
Surgical management of stone disease in patients with primary hyperoxaluriaQ36024826
Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluriaQ36079435
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant alleleQ36102388
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary HyperoxaluriaQ36104822
Primary hyperoxaluria type 1: still challenging!Q36524018
Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type IQ36951260
Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1.Q36951298
A test of the hypothesis that oxalate secretion produces proximal tubule crystallization in primary hyperoxaluria type I.Q37439745
Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practiceQ37621553
Cardiac abnormalities in primary hyperoxaluriaQ37797844
Extracorporal shock wave lithotripsy in the management of stones in children with oxalosis--still the first choice?Q38080493
The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.Q38172732
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1.Q38302375
Bone impairment in primary hyperoxaluria: a reviewQ38335976
The role of intestinal oxalate transport in hyperoxaluria and the formation of kidney stones in animals and man.Q38406458
RNA Interference (RNAi)-Based Therapeutics: Delivering on the Promise?Q38688625
DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE.Q38822823
Progress in Understanding the Genetics of Calcium-Containing NephrolithiasisQ39033649
End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcomeQ39118256
Inhibition of LDH-A by lentivirus-mediated small interfering RNA suppresses intestinal-type gastric cancer tumorigenicity through the downregulation of Oct4.Q39376989
LDH-A silencing suppresses breast cancer tumorigenicity through induction of oxidative stress mediated mitochondrial pathway apoptosisQ39567937
An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary HyperoxaluriaQ39586687
The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.Q40751107
Long-Term Renal Function in Liver Transplant Recipients After Conversion From Calcineurin Inhibitors to mTOR Inhibitors.Q41095897
siRNA Therapeutics for Primary Hyperoxaluria: A BeginningQ41840275
Metabolism of (13)C5-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenaseQ43098007
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcomeQ43218013
Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic groupQ44381884
Chronic renal failure in Iranian childrenQ44997750
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in IsraelQ46551809
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2.Q46818377
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisQ46964230
Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluriaQ48223488
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case ReportQ48589874
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.Q50576688
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.Q50748176
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I.Q51250243
A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.Q51839463
A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.Q52815916
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria.Q53036734
Skin manifestations of primary hyperoxaluria: a case report.Q53400592
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatmentQ63441478
Progressive peripheral neuropathy in patient with primary hyperoxaluriaQ66700769
Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantationQ69904827
Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie PédiatriqueQ70980435
Raising urinary citrate lowers calcium oxalate and calcium phosphate crystal formation in whole urineQ71779820
L-glyceric aciduria. A new genetic variant of primary hyperoxaluriaQ72016611
Thresholds of serum calcium oxalate supersaturation in relation to renal function in patients with or without primary hyperoxaluriaQ72366616
Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluriaQ72827908
Unusual morphology of calcium oxalate calculi in primary hyperoxaluriaQ74596707
Primary hyperoxaluriaQ74613854
Plasma calcium-oxalate saturation in children with renal insufficiency and in children with primary hyperoxaluriaQ77291576
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1Q79931117
End-stage renal disease in Kuwaiti children: an 8-year experienceQ80532177
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3Q83574341
Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluriaQ86076434
P2507corrigendum / erratumCorrection to: Recent advances in the identification and management of inherited hyperoxaluriasQ90673411
P433issue1
P304page(s)79-89
P577publication date2018-12-10
P1433published inUrolithiasisQ27724667
P1476titleRecent advances in the identification and management of inherited hyperoxalurias
P478volume47

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cites work (P2860)
Q89864261Clinical features of genetically confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening
Q92630903Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition

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