Research & Literature

Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.

Oppici E, Montioli R, Cellini B

Biochimica et biophysica acta 2015; (1854(9)):1212-9.

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

Hopp K, Cogal AG, Bergstralh EJ, et al.

Journal of the American Society of Nephrology : JASN 2015; (26(10)):2559-70 doi:10.1681/ASN.2014070698.

Primary and secondary hyperoxaluria: Understanding the enigma.

Bhasin B, Ürekli HM, Atta MG

World journal of nephrology 2015; (4(2)):235-44 doi:10.5527/wjn.v4.i2.235.

Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis.

Kurt-Sukur ED, Özçakar ZB, Fitöz S, et al.

Klinische Padiatrie 2015; (227(5)):293-5 doi:10.1055/s-0035-1554638.

Bone impairment in oxalosis: An ultrastructural bone analysis.

Bacchetta J, Farlay D, Abelin-Genevois K, et al.

Bone 2015; (81()):161-167 doi:10.1016/j.bone.2015.07.010.

Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria.

Clifford-Mobley O, Hewitt L, Rumsby G

Annals of clinical biochemistry 2016; (53(Pt 4)):485-94 doi:10.1177/0004563215606158.

Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.

Bollée G, Cochat P, Daudon M

Canadian journal of kidney health and disease 2015; (2()):31 doi:10.1186/s40697-015-0069-2.

Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1.

Castello R, Borzone R, D'Aria S, et al.

Gene therapy 2016; (23(2)):129-34 doi:10.1038/gt.2015.107.

Late diagnosis of primary hyperoxaluria type III.

Richard E, Blouin JM, Harambat J, et al.

Annals of clinical biochemistry 2017; (54(3)):406-411 doi:10.1177/0004563216677101.

[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].

Kalfon L, Weissman I, Hershkovits M, et al.

Harefuah 2017; (156(3)):156-162.

Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria.

Fargue S, Milliner DS, Knight J, et al.

Journal of the American Society of Nephrology : JASN 2018; (29(6)):1615-1623 doi:10.1681/ASN.2017040390.

Metabolic profile and impact of diet in patients with primary hyperoxaluria.

Siener R, Hoppe B, Löhr P, et al.

International urology and nephrology 2018; (50(9)):1583-1589 doi:10.1007/s11255-018-1939-1.

Ascorbic acid-induced oxalate nephropathy: a case report and discussion of pathologic mechanisms.

Lin WV, Turin CG, McCormick DW, et al.

CEN case reports 2019; (8(1)):67-70 doi:10.1007/s13730-018-0366-6.

Rapid liquid chromatography tandem mass-spectrometry screening method for urinary metabolites of primary hyperoxaluria.

Woodward G, Pryke R, Hoppe B, Rumsby G

Annals of clinical biochemistry 2019; (56(2)):232-239 doi:10.1177/0004563218811365.

Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1.

Atiskova Y, Dulz S, Schmäschke K, et al.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2019; (19(12)):3328-3334 doi:10.1111/ajt.15484.

Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study.

Lagies R, Udink Ten Cate FEA, Feldkötter M, et al.

Pediatric nephrology (Berlin, Germany) 2019; (34(12)):2591-2600 doi:10.1007/s00467-019-04330-7.

Primary Hyperoxaluria-Imaging of Renal Oxalosis.

Ethiraj D, Indiran V

Urology 2019; (134()):e3-e4 doi:10.1016/j.urology.2019.09.020.

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.

Garrelfs SF, Rumsby G, Peters-Sengers H, et al.

Kidney international 2019; (96(6)):1389-1399 doi:10.1016/j.kint.2019.08.018.

Clinical features of genetically confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening.

Sas DJ, Enders FT, Mehta RA, et al.

Kidney international 2020; (97(4)):786-792 doi:10.1016/j.kint.2019.11.023.

End Points for Clinical Trials in Primary Hyperoxaluria.

Milliner DS, McGregor TL, Thompson A, et al.

Clinical journal of the American Society of Nephrology : CJASN 2020; (15(7)):1056-1065 doi:10.2215/CJN.13821119.

The Impact of Alternative Alkalinizing Agents on 24-Hour Urine Parameters.

Boydston K, Terry R, Winship B, et al.

Urology 2020; (142()):55-59 doi:10.1016/j.urology.2020.04.047.

Plasma oxalate: comparison of methodologies.

Stokes F, Acquaviva-Bourdain C, Hoppe B, et al.

Urolithiasis 2020; (48(6)):473-480 doi:10.1007/s00240-020-01197-4.

Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.

Singh P, Viehman JK, Mehta RA, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2022; (37(5)):869-875 doi:10.1093/ndt/gfab027.

Calciphylaxis or vascular oxalosis?

El-Saygeh S, Roese D, Moe SM

Clinical kidney journal 2021; (14(1)):435-438 doi:10.1093/ckj/sfz190.

Long-term complications of systemic oxalosis in children-a retrospective single-center cohort study.

Ben-Shalom E, Cytter-Kuint R, Rinat C, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(10)):3123-3132 doi:10.1007/s00467-021-05002-1.

Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.

Garrelfs SF, Frishberg Y, Hulton SA, et al.

The New England journal of medicine 2021; (384(13)):1216-1226 doi:10.1056/NEJMoa2021712.

Transplantation outcomes in patients with primary hyperoxaluria: a systematic review.

Metry EL, van Dijk LMM, Peters-Sengers H, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(8)):2217-2226 doi:10.1007/s00467-021-05043-6.

Natural History of Clinical, Laboratory, and Echocardiographic Parameters of a Primary Hyperoxaluria Cohort on Long Term Hemodialysis.

Sas DJ, Enders FT, Gunderson TM, et al.

Frontiers in medicine 2021; (8()):592357 doi:10.3389/fmed.2021.592357.

Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria.

Forbes TA, Brown BD, Lai C

British journal of clinical pharmacology 2022; (88(6)):2525-2538 doi:10.1111/bcp.14925.

Lanthanum carbonate to control plasma and urinary oxalate level in type 1 primary hyperoxaluria?

Pozdzik A, David C, Vekeman J, et al.

IJU case reports 2021; (4(4)):235-238 doi:10.1002/iju5.12296.

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry.

Metry EL, Garrelfs SF, Peters-Sengers H, et al.

Kidney international reports 2022; (7(2)):210-220 doi:10.1016/j.ekir.2021.11.006.

Primary hyperoxaluria type 1: novel therapies at a glance.

Bacchetta J, Lieske JC

Clinical kidney journal 2022; (15(Suppl 1)):i17-i22 doi:10.1093/ckj/sfab245.

Treatment of primary hyperoxaluria type 1.

Gupta A, Somers MJG, Baum MA

Clinical kidney journal 2022; (15(Suppl 1)):i9-i13 doi:10.1093/ckj/sfab232.

Primary hyperoxaluria type 1: time for prime time?

Bacchetta J, Wood KD

Clinical kidney journal 2022; (15(Suppl 1)):i1-i3 doi:10.1093/ckj/sfab233.

Primary hyperoxaluria: the pediatric nephrologist's point of view.

Ben-Shalom E, Garrelfs SF, Groothoff JW

Clinical kidney journal 2022; (15(Suppl 1)):i23-i28 doi:10.1093/ckj/sfab231.

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

Ahmed HA, Fadel FI, Abdel Mawla MA, et al.

Molecular genetics & genomic medicine 2022; (10(8)):e1992 doi:10.1002/mgg3.1992.

Genetic assessment in primary hyperoxaluria: why it matters.

Mandrile G, Beck B, Acquaviva C, et al.

Pediatric nephrology (Berlin, Germany) 2023; (38(3)):625-634 doi:10.1007/s00467-022-05613-2.

Improving Treatment Options for Primary Hyperoxaluria.

Hoppe B, Martin-Higueras C

Drugs 2022; (82(10)):1077-1094 doi:10.1007/s40265-022-01735-x.

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.

Deesker LJ, Garrelfs SF, Mandrile G, et al.

Kidney international reports 2022; (7(7)):1608-1618 doi:10.1016/j.ekir.2022.04.012.

PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2.

Baum MA, Langman C, Cochat P, et al.

Kidney international 2023; (103(1)):207-217 doi:10.1016/j.kint.2022.07.025.

Clinical and molecular characterization of primary hyperoxaluria in Egypt.

Soliman NA, Elmonem MA, Abdelrahman SM, et al.

Scientific reports 2022; (12(1)):15886 doi:10.1038/s41598-022-17980-9.

Three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I.

Merz LM, Born M, Kukuk G, et al.

Pediatric nephrology (Berlin, Germany) 2023; (38(7)):2083-2092 doi:10.1007/s00467-022-05836-3.

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.

Groothoff JW, Metry E, Deesker L, et al.

Nature reviews. Nephrology 2023; (19(3)):194-211 doi:10.1038/s41581-022-00661-1.

Primary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome.

Wannous H

Pediatric nephrology (Berlin, Germany) 2023; (38(8)):2643-2648 doi:10.1007/s00467-023-05917-x.

Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?

Biebuyck N, Destombes C, Prakash R, Boyer O

Journal of nephrology 2023; (36(5)):1473-1476 doi:10.1007/s40620-023-01611-1.

A Case Report of Kidney-Only Transplantation in Primary Hyperoxaluria Type 1: A Novel Approach with the Use of Nedosiran.

Breeggemann MC, Gluck SL, Stoller ML, Lee MM

Case reports in nephrology and dialysis 2023; (13(1)):63-69 doi:10.1159/000531053.

Distinguishing characteristics of pediatric patients with primary hyperoxaluria type 1 in PEDSnet.

Tasian GE, Dickinson K, Park G, et al.

Journal of pediatric urology 2024; (20(1)):88.e1-88.e9 doi:10.1016/j.jpurol.2023.10.001.

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.

Metry EL, Garrelfs SF, Deesker LJ, et al.

Kidney international reports 2023; (8(10)):2029-2042 doi:10.1016/j.ekir.2023.07.025.

Palmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature.

Alabdullah H, Soqia J, Douri T

Clinical case reports 2024; (12(1)):e8423 doi:10.1002/ccr3.8423.

Late Presentation of Primary Oxalosis, Microcrystalline Arthropathy, and Tumoral Calcinosis: A Case Report and a Literature Review.

Mrabet S, BenHmida M

Current rheumatology reviews 2024; (20(4)):455-458 doi:10.2174/0115733971271874231118154332.

Lumasiran: A Review in Primary Hyperoxaluria Type 1.

Kang C

Drugs 2024; (84(2)):219-226 doi:10.1007/s40265-023-01987-1.

Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.

Martin-Higueras C, Borghese L, Torres A, et al.

Kidney international reports 2024; (9(1)):114-133 doi:10.1016/j.ekir.2023.10.004.

Nedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3.

Groothoff J, Sellier-Leclerc AL, Deesker L, et al.

Kidney international reports 2024; (9(5)):1387-1396 doi:10.1016/j.ekir.2024.02.1439.

Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1: Results from a Phase III Clinical Trial.

Saland JM, Lieske JC, Groothoff JW, et al.

Kidney international reports 2024; (9(7)):2037-2046 doi:10.1016/j.ekir.2024.04.048.

Late-onset retinal oxalosis in primary hyperoxaluria type 2.

Bhuyan R, Maggio T, Thomas C, et al.

American journal of ophthalmology case reports 2024; (36()):102156 doi:10.1016/j.ajoc.2024.102156.

Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.

Julius M, Lavsky HS, Kalfon L, et al.

Pediatric nephrology (Berlin, Germany) 2025; (40(3)):731-741 doi:10.1007/s00467-024-06536-w.

Human glyoxylate metabolism revisited: New insights pointing to multi-organ involvement with implications for siRNA-based therapies in primary hyperoxaluria.

Wanders RJA, Groothoff JW, Deesker LJ, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12817 doi:10.1002/jimd.12817.

Genetic Diagnosis of Hyperoxaluria Type 3 Patients Using Haplotype Analysis.

Ataabadi ST, Behi L, Mojbafan M, Hooman N

Kidney & blood pressure research 2025; (50(1)):189-197 doi:10.1159/000544093.

Plasma Glycolate Levels Contribute to Drive the Decision of Isolated Kidney Transplantation in Dialyzed Patients with End-Stage Kidney Disease due to Primary Hyperoxaluria Type 1 Treated with Lumasiran: A Case Report.

Moretti MI, Leporati M, Mazzucchelli R, et al.

Case reports in nephrology and dialysis 2025; (15(1)):141-149 doi:10.1159/000546144.

Lumasiran at birth changes the trajectory of primary hyperoxaluria type 1: same disease, different outcomes in two affected siblings.

Peruzzi L, Leporati M,

Journal of nephrology 2025; (38(8)):2417-2422 doi:10.1007/s40620-025-02325-2.

Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.

Gatticchi L, Bellezza I, Rumsby G, et al.

The Journal of biological chemistry 2025; (301(8)):110494 doi:10.1016/j.jbc.2025.110494.

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.

Mandrile G, Rumsby G, Sciannameo V, et al.

Clinical kidney journal 2025; (18(7)):sfaf194 doi:10.1093/ckj/sfaf194.

RNA interference medication and transplantation procedures in patients with primary hyperoxaluria type 1.

Martin-Higueras C, Borghese L, König J, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2026; (41(4)):736-749 doi:10.1093/ndt/gfaf202.

Final Results of the ILLUMINATE-A Phase 3 Clinical Trial of Lumasiran for Primary Hyperoxaluria 1.

Frishberg Y, Saland JM, Lieske JC, et al.

Clinical journal of the American Society of Nephrology : CJASN 2026; (21(3)):377-388 doi:10.2215/CJN.0000000916.

Hyperoxaluria by the AGXT gene: a case report.

Naghettini AV, Mesquita AL, Santos AN, et al.

Journal of medical case reports 2026; (20(1)):86 doi:10.1186/s13256-025-05796-w.

Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.

Martínez-Galindo R, Campuzano-Pérez M, Konstantouli A, et al.

Journal of clinical medicine 2026; (15(3)) doi:10.3390/jcm15030940.

Isolated Kidney Transplant in Primary Hyperoxaluria-1 Enabled by Small Interfering RNA (siRNA) Therapy. Is It Time for Change? Case Report and Review of the Literature.

Habeeb SM, Simkova E, Al-Akash S, et al.

Pediatric transplantation 2026; (30(5)):e70322 doi:10.1111/petr.70322.

From recurrent flank pain to systemic oxalosis: a case of primary hyperoxaluria type 1 requiring dual organ transplantation.

Hassan SMS, Amjad N, Rab M, et al.

Annals of medicine and surgery (2012) 2026; (88(6)):3753-3758 doi:10.1097/MS9.0000000000005158.

Primary Hyperoxaluria Type 1 Diagnosed After Kidney Transplantation in the Absence of Classical Features.

Sultan R, Alsayed-Ahmad ZA, Shheibar AR, et al.

Case reports in nephrology 2026; (2026()):4378614 doi:10.1155/crin/4378614.