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Hyperoxaluria, including primary and secondary hyperoxaluria, is a disorder characterized by increased urinary oxalate excretion and could lead to recurrent calcium oxalate kidney stones, nephrocalcinosis and eventually end stage renal disease.
Lingyue An +12 more
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Primary hyperoxaluria type 1 in Tunisian children
To determine the clinical, biological, and radiological futures of primary hyper-oxaluria type 1 in Tunisian children, we retrospectively studied 44 children with primary hyper-oxaluria type 1 who were treated in our center from 1995 to 2009.
Tahar Gargah +5 more
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A 27-year-old man presented with influenza-like symptoms and rapidly progressing respiratory failure requiring mechanical ventilation and venovenous extracorporeal membrane oxygenation on the day of admission.
Salmina J. Guivala +8 more
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Kaleidoscopic Views in the Bone Marrow: Oxalate Crystals in a Patient Presenting with Bicytopenia
Pancytopenia associated with BM infiltration of different deposits is a rare condition mostly associated with amyloidosis or the accumulation of iron. One of the rarest deposits in the BM is oxalate crystals due to hyperoxaluria [1,2,3].
Yelda Dere +2 more
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Substrate reduction therapies (SRT) are a promising therapeutic approach for monogenic inherited metabolic diseases. Here the authors evaluate the therapeutic potential of an in vivo CRISPR/Cas9-mediated SRT to treat primary hyperoxaluria type I and ...
Nerea Zabaleta +16 more
doaj +1 more source
Inborn errors of metabolism cause increase of metabolites in serum and their deposition in various organs including bone marrow. Primary hyperoxaluria (PH) is a rare inborn error in the pathway of glyoxylate metabolism which causes excessive oxalate ...
Pardis Nematollahi +1 more
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Multiomics Assessment of the Gut Microbiome in Rare Hyperoxaluric Conditions
Introduction: Hyperoxaluria is a risk factor for kidney stone formation and chronic kidney disease progression. The microbiome is an important protective factor against oxalate accumulation through the activity of its oxalate-degrading enzymes (ODEs). In
Nadim Zaidan +12 more
doaj +1 more source
Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly
John Fredy Nieto Rios +7 more
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Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report
Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the AGXT gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme.
Asma Hasan +3 more
doaj +1 more source

