Results 61 to 70 of about 4,323 (173)
Annals of Internal Medicine: Clinical CasesA 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
Turkish Journal of Hematology, 2016 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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Nature Communications, 2018 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
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Systemic Oxalosis in Infants: Two Cases and Literature Review
Turkish Journal of Nephrology, 2019 The infantile form of primary hyperoxaluria is a very rare disease and often presents as a lifethreatening condition because of rapid progression to end-stage renal disease and systemic oxalosis.
Zübeyde GÜNDÜZ +5 more
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Case Reports in Hematology, 2015 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
Kidney International ReportsIntroduction: 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
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Brazilian Journal of NephrologyPrimary 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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Skeletal features of primary hyperoxaluria type 1, revisited
Journal of Children's Orthopaedics, 2008 Purpose The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias. Methods We clinically and radiographically reviewed 12 consecutive patients diagnosed with
Samer El Hage +6 more
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