scholarly article | Q13442814 |
P356 | DOI | 10.1007/S00240-018-1093-3 |
P698 | PubMed publication ID | 30535828 |
P2093 | author name string | Peter C Harris | |
Dawn S Milliner | |||
David J Sas | |||
P2860 | cites work | The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II | Q22010369 |
Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III | Q24297629 | ||
Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1 | Q24306643 | ||
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis | Q24337342 | ||
Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria | Q30403926 | ||
Endourologic treatment of nephrocalcinosis | Q30657246 | ||
Hereditary causes of kidney stones and chronic kidney disease | Q34066169 | ||
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 metabolism | Q34455891 | ||
Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter | Q34719077 | ||
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome | Q35051564 | ||
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. | Q35124270 | ||
Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant | Q35977167 | ||
Surgical management of stone disease in patients with primary hyperoxaluria | Q36024826 | ||
Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria | Q36079435 | ||
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele | Q36102388 | ||
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria | Q36104822 | ||
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 I | Q36951260 | ||
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 practice | Q37621553 | ||
Cardiac abnormalities in primary hyperoxaluria | Q37797844 | ||
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 review | Q38335976 | ||
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 Nephrolithiasis | Q39033649 | ||
End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcome | Q39118256 | ||
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 apoptosis | Q39567937 | ||
An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria | Q39586687 | ||
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 Beginning | Q41840275 | ||
Metabolism of (13)C5-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase | Q43098007 | ||
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome | Q43218013 | ||
Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group | Q44381884 | ||
Chronic renal failure in Iranian children | Q44997750 | ||
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel | Q46551809 | ||
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 nephrocalcinosis | Q46964230 | ||
Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria | Q48223488 | ||
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report | Q48589874 | ||
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 treatment | Q63441478 | ||
Progressive peripheral neuropathy in patient with primary hyperoxaluria | Q66700769 | ||
Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation | Q69904827 | ||
Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique | Q70980435 | ||
Raising urinary citrate lowers calcium oxalate and calcium phosphate crystal formation in whole urine | Q71779820 | ||
L-glyceric aciduria. A new genetic variant of primary hyperoxaluria | Q72016611 | ||
Thresholds of serum calcium oxalate supersaturation in relation to renal function in patients with or without primary hyperoxaluria | Q72366616 | ||
Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria | Q72827908 | ||
Unusual morphology of calcium oxalate calculi in primary hyperoxaluria | Q74596707 | ||
Primary hyperoxaluria | Q74613854 | ||
Plasma calcium-oxalate saturation in children with renal insufficiency and in children with primary hyperoxaluria | Q77291576 | ||
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1 | Q79931117 | ||
End-stage renal disease in Kuwaiti children: an 8-year experience | Q80532177 | ||
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3 | Q83574341 | ||
Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria | Q86076434 | ||
P2507 | corrigendum / erratum | Correction to: Recent advances in the identification and management of inherited hyperoxalurias | Q90673411 |
P433 | issue | 1 | |
P304 | page(s) | 79-89 | |
P577 | publication date | 2018-12-10 | |
P1433 | published in | Urolithiasis | Q27724667 |
P1476 | title | Recent advances in the identification and management of inherited hyperoxalurias | |
P478 | volume | 47 |
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