Primary hyperoxalurias: diagnosis and treatment

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Primary hyperoxalurias: diagnosis and treatment is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P6179Dimensions Publication ID1044794688
P356DOI10.1007/S00467-014-3030-1
P698PubMed publication ID25519509

P2093author name stringEfrat Ben-Shalom
Yaacov Frishberg
P2860cites workThe gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type IIQ22010369
Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductaseQ22010680
Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type IIIQ24297629
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type IQ24299643
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2Q24306240
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
Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutationQ24559970
Primary hyperoxalurias: disorders of glyoxylate detoxificationQ27014567
The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type IQ27680557
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutationsQ28144619
Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferaseQ28281739
The 1998 report of the Japanese National Registry data on pediatric end-stage renal disease patientsQ30702618
Kidney transplantation in primary oxalosis: data from the EDTA RegistryQ33771313
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).Q33921289
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donorQ34103673
Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria.Q34175404
Transplantation Outcomes in Primary HyperoxaluriaQ34247162
Sensory neuropathy from pyridoxine abuse. A new megavitamin syndromeQ34254765
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.Q34278719
Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 childrenQ34335885
Urinary volume, water and recurrences in idiopathic calcium nephrolithiasis: a 5-year randomized prospective studyQ34732675
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3Q34734729
Kidney stones in primary hyperoxaluria: new lessons learntQ34935451
Phenotypic correction of a mouse model for primary hyperoxaluria with adeno-associated virus gene transferQ34994501
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcomeQ35051564
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferaseQ35163511
Primary hyperoxaluria and oxalosis; report of a case and review of the literatureQ35271508
Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapyQ35827275
Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplantQ35977167
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant alleleQ36102388
The primary hyperoxalurias: an algorithm for diagnosisQ36108478
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibitionQ36162108
International registry for primary hyperoxaluriaQ36165824
An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondriaQ36220466
Calcium oxalate crystals induce renal inflammation by NLRP3-mediated IL-1β secretionQ36497205
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategiesQ36543042
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.Q37500313
Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practiceQ37621553
Oxalate-degrading bacteria of the human gut as probiotics in the management of kidney stone diseaseQ37770140
Messengers without borders: mediators of systemic inflammatory response in AKI.Q38076685
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
End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcomeQ39118256
Primary hyperoxaluria type III--a model for studying perturbations in glyoxylate metabolismQ39325975
Oxalate is toxic to renal tubular cells only at supraphysiologic concentrationsQ40373211
Long-term prognosis in primary hyperoxaluria type II (L-glyceric aciduria).Q40815803
Clinical Manifestations of Primary HyperoxaluriaQ41542977
Stroke in primary hyperoxaluria type I.Q42008204
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 cohortQ43990085
Primary hyperoxaluria type 2 in childrenQ44107546
Renal allograft survival in patients with oxalosisQ44157206
Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic groupQ44381884
One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: a single-center experienceQ44681423
Clinical implications of mutation analysis in primary hyperoxaluria type 1.Q44978371
Shock wave induced kidney injury promotes calcium oxalate deposition.Q45962637
Peculiar morphology of stones in primary hyperoxaluriaQ46506012
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in IsraelQ46551809
Primary hyperoxaluria--the German experienceQ46551813
A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): the European PH1 transplant registry experience 1984-2004.Q46551815
Primary hyperoxaluria type 1 in JapanQ46551819
[13C2]oxalate absorption in children with idiopathic calcium oxalate urolithiasis or primary hyperoxaluria.Q46704629
Crystals cause acute necrotic cell death in renal proximal tubule cells, but not in collecting tubule cellsQ46704829
Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?Q50145749
Oral manifestations of hyperoxaluria.Q50507995
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.Q50748176
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria.Q53036734
Fifteen-year follow-up of hyperoxaluria type II.Q53778578
Excessive urinary oxalate excretion after combined renal and hepatic transplantation for correction of hyperoxaluria type 1.Q53962920
Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation.Q54443405
Myocardial infiltration by oxalate: a rare case of cardiomyopathy by accumulation of oxalate in a 53-year-old woman.Q54727116
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatmentQ63441478
Efficacy of oral citrate administration in primary hyperoxaluriaQ70980425
Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie PédiatriqueQ70980435
Ocular involvement in primary hyperoxaluriaQ71289929
Changing pattern of primary hyperoxaluria in SwitzerlandQ71534659
Bone changes in end-stage oxalosisQ71544795
Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failureQ71671263
Oxalosis of bone: report of four cases and a new radiological stagingQ71761919
L-glyceric aciduria. A new genetic variant of primary hyperoxaluriaQ72016611
End-stage renal failure in primary hyperoxaluria type 2Q72407131
Oxalosis; possible inborn error of metabolism with nephrolithiasis and nephrocalcinosis due to calcium oxalate as the predominating featuresQ72999966
Hypothyroidism in primary hyperoxaluria type 1Q73407594
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1Q74137117
Primary hyperoxaluriaQ74613854
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1Q79931117
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experienceQ80124022
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1Q80217888
End-stage renal disease in Kuwaiti children: an 8-year experienceQ80532177
A comparative analysis of the evolutionary relationship between diet and enzyme targeting in bats, marsupials and other mammalsQ81738377
Etiology of chronic renal failure in Jenin district, PalestineQ83213138
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3Q83574341
Immediate postoperative intensive care treatment of pediatric combined liver-kidney transplantation: outcome and prognostic factorsQ84039103
Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosisQ84446192
Sequential liver and kidney transplantation from a single living donor in two young adults with primary hyperoxaluria type 1Q86485408
Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2Q87404908
P433issue10
P304page(s)1781-1791
P577publication date2014-12-18
P1433published inPediatric NephrologyQ15749796
P1476titlePrimary hyperoxalurias: diagnosis and treatment
P478volume30

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cites work (P2860)
Q47602222Folding Defects Leading to Primary Hyperoxaluria
Q104617773Knockdown of lactate dehydrogenase by adeno-associated virus-delivered CRISPR/Cas9 system alleviates primary hyperoxaluria type 1
Q88504916Metabolite diagnosis of primary hyperoxaluria type 3
Q33749907Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism
Q39185844Urinary oxalate to creatinine ratios in healthy Turkish schoolchildren
Q95476167[Oliguria and acute renal dysfunction in a six-month-old infant]

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