scholarly article | Q13442814 |
P50 | author | Jeremy Franklin | Q59764009 |
P2093 | author name string | Bernd Hoppe | |
Barbara Hero | |||
Bodo B Beck | |||
Ruth Volland | |||
Heike Hoyer-Kuhn | |||
Sina Kohbrok | |||
P2860 | cites work | Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations | Q24302592 |
Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1 | Q24306643 | ||
Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase | Q28281739 | ||
Primary hyperoxaluria type 1. | Q33650306 | ||
Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria. | Q34175404 | ||
Transplantation Outcomes in Primary Hyperoxaluria | Q34247162 | ||
The primary hyperoxalurias | Q34344207 | ||
A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine | Q34461054 | ||
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. | Q34658755 | ||
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome | Q35051564 | ||
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase | Q35163511 | ||
Diagnostic and therapeutic approaches in patients with secondary hyperoxaluria | Q35212760 | ||
Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy | Q35827275 | ||
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele | Q36102388 | ||
An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria | Q36220466 | ||
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. | Q37500313 | ||
Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeti | Q42771608 | ||
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome | Q43218013 | ||
Phenotypic expression of primary hyperoxaluria: comparative features of types I and II. | Q43514404 | ||
Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort | Q43990085 | ||
Clinical implications of mutation analysis in primary hyperoxaluria type 1. | Q44978371 | ||
Expressing the Modification of Diet in Renal Disease Study equation for estimating glomerular filtration rate with standardized serum creatinine values | Q45119840 | ||
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance. | Q46263908 | ||
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria | Q46453748 | ||
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel | Q46551809 | ||
A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): the European PH1 transplant registry experience 1984-2004. | Q46551815 | ||
[13C2]oxalate absorption in children with idiopathic calcium oxalate urolithiasis or primary hyperoxaluria. | Q46704629 | ||
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. | Q50748176 | ||
Simultaneous determination of oxalate, citrate and sulfate in children's plasma with ion chromatography | Q50891339 | ||
Some factors influencing the urinary excretion of oxalic acid in man. | Q51686201 | ||
The effect of pyridoxine on oxalate dynamics in three cases of primary hyperoxaluria (with glycollic aciduria). | Q53812826 | ||
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment | Q63441478 | ||
Peroxisomal alanine:glyoxylate aminotransferase and prenatal diagnosis of primary hyperoxaluria type 1 | Q69889291 | ||
Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria | Q70063817 | ||
Molecular and clinical heterogeneity in primary hyperoxaluria type 1 | Q70126477 | ||
The action of pyridoxine in primary hyperoxaluria | Q71425302 | ||
Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria | Q72827908 | ||
Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure | Q78016647 | ||
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1 | Q79931117 | ||
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1 | Q80217888 | ||
Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1 | Q82875562 | ||
Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis | Q84446192 | ||
Primary hyperoxaluria | Q87252608 | ||
P433 | issue | 3 | |
P921 | main subject | vitamin | Q34956 |
vitamin B | Q183206 | ||
primary hyperoxaluria | Q7243137 | ||
vitamin B6 | Q205130 | ||
pyridoxine | Q423746 | ||
P304 | page(s) | 468-477 | |
P577 | publication date | 2014-01-02 | |
P1433 | published in | Clinical Journal of the American Society of Nephrology | Q15757929 |
P1476 | title | Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice | |
P478 | volume | 9 |
Q52815916 | A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. |
Q51839463 | A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. |
Q47433097 | Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6. |
Q40015456 | Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay. |
Q90280443 | Endpoints for Clinical Trials in Primary Hyperoxaluria |
Q38363406 | Enteric hyperoxaluria: an important cause of end-stage kidney disease |
Q63441475 | Factors influencing clinical outcome in patients with primary hyperoxaluria type 1 |
Q47602222 | Folding Defects Leading to Primary Hyperoxaluria |
Q92439241 | Importance of Assessing Compliance with Conservative Treatment of Primary Hyperoxaluria Type 1: A Case Report of a Patient with I244T/c.969-3C>G Mutation |
Q36951298 | Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1. |
Q49959947 | Investigation and management of renal stone disease |
Q58588749 | Medical therapy for nephrolithiasis: State of the art |
Q90433721 | Metabolic profile and impact of diet in patients with primary hyperoxaluria |
Q34407663 | Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1. |
Q36104822 | Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria |
Q58583358 | Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report |
Q38292247 | Primary hyperoxalurias: diagnosis and treatment |
Q50576688 | Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I. |
Q90395008 | Recent advances in the identification and management of inherited hyperoxalurias |
Q26784171 | Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria |
Q57061381 | Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I |
Q35977167 | Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant |
Q58609046 | The Effect of Calcium and Vitamin B6 Supplementation on Oxalate Excretion in a Rodent Gastric Bypass Model of Enteric Hyperoxaluria |
Q98463100 | The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization |
Q88733062 | Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria |
Q39023120 | Tubular and genetic disorders associated with kidney stones |
Q48182454 | Vitamin B6 intake and the risk of incident kidney stones. |
Q95476167 | [Oliguria and acute renal dysfunction in a six-month-old infant] |
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