review article | Q7318358 |
scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1044794688 |
P356 | DOI | 10.1007/S00467-014-3030-1 |
P698 | PubMed publication ID | 25519509 |
P2093 | author name string | Efrat Ben-Shalom | |
Yaacov Frishberg | |||
P2860 | cites work | The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II | Q22010369 |
Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase | Q22010680 | ||
Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III | Q24297629 | ||
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I | Q24299643 | ||
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2 | Q24306240 | ||
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 | ||
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 mutation | Q24559970 | ||
Primary hyperoxalurias: disorders of glyoxylate detoxification | Q27014567 | ||
The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I | Q27680557 | ||
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations | Q28144619 | ||
Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase | Q28281739 | ||
The 1998 report of the Japanese National Registry data on pediatric end-stage renal disease patients | Q30702618 | ||
Kidney transplantation in primary oxalosis: data from the EDTA Registry | Q33771313 | ||
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 donor | Q34103673 | ||
Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria. | Q34175404 | ||
Transplantation Outcomes in Primary Hyperoxaluria | Q34247162 | ||
Sensory neuropathy from pyridoxine abuse. A new megavitamin syndrome | Q34254765 | ||
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 children | Q34335885 | ||
Urinary volume, water and recurrences in idiopathic calcium nephrolithiasis: a 5-year randomized prospective study | Q34732675 | ||
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3 | Q34734729 | ||
Kidney stones in primary hyperoxaluria: new lessons learnt | Q34935451 | ||
Phenotypic correction of a mouse model for primary hyperoxaluria with adeno-associated virus gene transfer | Q34994501 | ||
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 | ||
Primary hyperoxaluria and oxalosis; report of a case and review of the literature | Q35271508 | ||
Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy | Q35827275 | ||
Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant | Q35977167 | ||
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele | Q36102388 | ||
The primary hyperoxalurias: an algorithm for diagnosis | Q36108478 | ||
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition | Q36162108 | ||
International registry for primary hyperoxaluria | Q36165824 | ||
An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria | Q36220466 | ||
Calcium oxalate crystals induce renal inflammation by NLRP3-mediated IL-1β secretion | Q36497205 | ||
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies | Q36543042 | ||
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 practice | Q37621553 | ||
Oxalate-degrading bacteria of the human gut as probiotics in the management of kidney stone disease | Q37770140 | ||
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 outcome | Q39118256 | ||
Primary hyperoxaluria type III--a model for studying perturbations in glyoxylate metabolism | Q39325975 | ||
Oxalate is toxic to renal tubular cells only at supraphysiologic concentrations | Q40373211 | ||
Long-term prognosis in primary hyperoxaluria type II (L-glyceric aciduria). | Q40815803 | ||
Clinical Manifestations of Primary Hyperoxaluria | Q41542977 | ||
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 cohort | Q43990085 | ||
Primary hyperoxaluria type 2 in children | Q44107546 | ||
Renal allograft survival in patients with oxalosis | Q44157206 | ||
Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group | Q44381884 | ||
One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: a single-center experience | Q44681423 | ||
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 hyperoxaluria | Q46506012 | ||
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel | Q46551809 | ||
Primary hyperoxaluria--the German experience | Q46551813 | ||
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 Japan | Q46551819 | ||
[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 cells | Q46704829 | ||
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 treatment | Q63441478 | ||
Efficacy of oral citrate administration in primary hyperoxaluria | Q70980425 | ||
Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique | Q70980435 | ||
Ocular involvement in primary hyperoxaluria | Q71289929 | ||
Changing pattern of primary hyperoxaluria in Switzerland | Q71534659 | ||
Bone changes in end-stage oxalosis | Q71544795 | ||
Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure | Q71671263 | ||
Oxalosis of bone: report of four cases and a new radiological staging | Q71761919 | ||
L-glyceric aciduria. A new genetic variant of primary hyperoxaluria | Q72016611 | ||
End-stage renal failure in primary hyperoxaluria type 2 | Q72407131 | ||
Oxalosis; possible inborn error of metabolism with nephrolithiasis and nephrocalcinosis due to calcium oxalate as the predominating features | Q72999966 | ||
Hypothyroidism in primary hyperoxaluria type 1 | Q73407594 | ||
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1 | Q74137117 | ||
Primary hyperoxaluria | Q74613854 | ||
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1 | Q79931117 | ||
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience | Q80124022 | ||
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1 | Q80217888 | ||
End-stage renal disease in Kuwaiti children: an 8-year experience | Q80532177 | ||
A comparative analysis of the evolutionary relationship between diet and enzyme targeting in bats, marsupials and other mammals | Q81738377 | ||
Etiology of chronic renal failure in Jenin district, Palestine | Q83213138 | ||
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3 | Q83574341 | ||
Immediate postoperative intensive care treatment of pediatric combined liver-kidney transplantation: outcome and prognostic factors | Q84039103 | ||
Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis | Q84446192 | ||
Sequential liver and kidney transplantation from a single living donor in two young adults with primary hyperoxaluria type 1 | Q86485408 | ||
Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2 | Q87404908 | ||
P433 | issue | 10 | |
P304 | page(s) | 1781-1791 | |
P577 | publication date | 2014-12-18 | |
P1433 | published in | Pediatric Nephrology | Q15749796 |
P1476 | title | Primary hyperoxalurias: diagnosis and treatment | |
P478 | volume | 30 |
Q47602222 | Folding Defects Leading to Primary Hyperoxaluria |
Q104617773 | Knockdown of lactate dehydrogenase by adeno-associated virus-delivered CRISPR/Cas9 system alleviates primary hyperoxaluria type 1 |
Q88504916 | Metabolite diagnosis of primary hyperoxaluria type 3 |
Q33749907 | Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism |
Q39185844 | Urinary oxalate to creatinine ratios in healthy Turkish schoolchildren |
Q95476167 | [Oliguria and acute renal dysfunction in a six-month-old infant] |
Search more.