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Items: 1 to 20 of 70

1.

Primary Hyperoxaluria.

Jiang D, Geng H.

N Engl J Med. 2017 Apr 13;376(15):e33. doi: 10.1056/NEJMicm1609986. No abstract available.

2.

Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I.

Roncador A, Oppici E, Talelli M, Pariente AN, Donini M, Dusi S, Voltattorni CB, Vicent MJ, Cellini B.

Nanomedicine. 2017 Apr;13(3):897-907. doi: 10.1016/j.nano.2016.12.011. Epub 2016 Dec 18.

PMID:
27993722
3.

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

M'dimegh S, Omezzine A, M'barek I, Moussa A, Mabrouk S, Kaarout H, Souche G, Chemli J, Aloui S, Aquaviva-Bourdain C, Achour A, Abroug S, Bouslama A.

Ann Hum Genet. 2017 Jan;81(1):1-10. doi: 10.1111/ahg.12178. Epub 2016 Dec 9.

PMID:
27935012
4.

The primary hyperoxalurias: A practical approach to diagnosis and treatment.

Hulton SA.

Int J Surg. 2016 Dec;36(Pt D):649-654. doi: 10.1016/j.ijsu.2016.10.039. Epub 2016 Nov 1. Review.

PMID:
27815184
5.

DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE.

Derveaux T, Delbeke P, Walraedt S, Raes A, Van Laecke S, Leroy BP, De Zaeytijd J.

Retina. 2016 Nov;36(11):2227-2235. Review.

PMID:
27135212
6.

Late diagnosis of primary hyperoxaluria type III.

Richard E, Blouin JM, Harambat J, Llanas B, Bouchet S, Acquaviva C, de la Faille R.

Ann Clin Biochem. 2017 May;54(3):406-411. doi: 10.1177/0004563216677101. Epub 2017 Jan 10.

PMID:
27742850
7.

A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.

M'Dimegh S, Aquaviva-Bourdain C, Omezzine A, M'Barek I, Souche G, Zellama D, Abidi K, Achour A, Gargah T, Abroug S, Bouslama A.

J Genet. 2016 Sep;95(3):659-66.

8.

Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation.

Zapata-Linares N, Rodriguez S, Salido E, Abizanda G, Iglesias E, Prosper F, Gonzalez-Aseguinolaza G, Rodriguez-Madoz JR.

Stem Cell Res. 2016 Jan;16(1):116-9. doi: 10.1016/j.scr.2015.12.014. Epub 2015 Dec 28.

9.

Re: Pyridoxamine and Pyridoxal are More Effective than Pyridoxine in Rescuing Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.

Assimos DG.

J Urol. 2016 Apr;195(4 Pt 1):1170-1. doi: 10.1016/j.juro.2016.01.066. Epub 2016 Jan 22. No abstract available.

PMID:
27302825
10.

Complexity of pre-emptive liver transplantation in children with primary hyperoxaluria type 1.

Squires J, Nguyen C.

Pediatr Transplant. 2016 Aug;20(5):604-6. doi: 10.1111/petr.12740. Epub 2016 Jun 13. No abstract available.

PMID:
27292943
11.

Primary hyperoxaluria in an adult male: A rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed.

El-Reshaid K, Al-Bader D, Madda JP.

Saudi J Kidney Dis Transpl. 2016 May;27(3):606-9. doi: 10.4103/1319-2442.182440.

12.

Primary hyperoxaluria in infants.

Jellouli M, Ferjani M, Abidi K, Zarrouk C, Naija O, Abdelmoula J, Gargah T.

Saudi J Kidney Dis Transpl. 2016 May;27(3):526-32. doi: 10.4103/1319-2442.182389.

13.

Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.

MacDonald JR, Huang AD, Loomes KM.

FEBS Lett. 2016 May;590(10):1467-76. doi: 10.1002/1873-3468.12181. Epub 2016 May 10.

14.

siRNA Therapeutics for Primary Hyperoxaluria: A Beginning.

Milliner DS.

Mol Ther. 2016 Apr;24(4):666-7. doi: 10.1038/mt.2016.50. No abstract available.

15.

An institutional experience of pre-emptive liver transplantation for pediatric primary hyperoxaluria type 1.

Khorsandi SE, Samyn M, Hassan A, Vilca-Melendez H, Waller S, Shroff R, Koffman G, Van't Hoff W, Baker A, Dhawan A, Heaton N.

Pediatr Transplant. 2016 Jun;20(4):523-9. doi: 10.1111/petr.12705. Epub 2016 Apr 8.

PMID:
27061278
16.

Kaleidoscopic Views in the Bone Marrow: Oxalate Crystals in a Patient Presenting with Bicytopenia.

Dere Y, Erbil S, Sezak M, Doğanavşargil B, Yılmaz M, Özsan N, Hekimgil M.

Turk J Haematol. 2016 Mar 5;33(1):79-80. doi: 10.4274/tjh.2015.0256. No abstract available.

17.

Urine oxalate biological variation in patients with primary hyperoxaluria.

Clifford-Mobley O, Sjögren A, Lindner E, Rumsby G.

Urolithiasis. 2016 Aug;44(4):333-7. doi: 10.1007/s00240-016-0860-2. Epub 2016 Feb 8.

PMID:
26857252
18.

Calcium oxalate crystalluria points to primary hyperoxaluria type 1.

Poloni JA, Garcia CD, Rotta LN, Perazella MA.

Kidney Int. 2016 Jan;89(1):250. doi: 10.1016/j.kint.2015.11.001. No abstract available.

PMID:
26759051
19.

Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1.

Dutta C, Avitahl-Curtis N, Pursell N, Larsson Cohen M, Holmes B, Diwanji R, Zhou W, Apponi L, Koser M, Ying B, Chen D, Shui X, Saxena U, Cyr WA, Shah A, Nazef N, Wang W, Abrams M, Dudek H, Salido E, Brown BD, Lai C.

Mol Ther. 2016 Apr;24(4):770-8. doi: 10.1038/mt.2016.4. Epub 2016 Jan 13.

20.

Re: Surgical Management of Stone Disease in Patients with Primary Hyperoxaluria.

Assimos DG.

J Urol. 2016 Jan;195(1):104-5. doi: 10.1016/j.juro.2015.10.007. Epub 2015 Nov 21. No abstract available.

PMID:
26699967

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