Results 81 to 90 of about 5,205 (214)

Primary hyperoxaluria type III - A model for studying perturbations in glyoxylate metabolism [PDF]

, 2012
Perturbations in glyoxylate metabolism lead to the accumulation of oxalate and give rise to primary hyperoxalurias, recessive disorders characterized by kidney stone disease.
Belostotsky, R, Pitt, JJ, Frishberg, Y
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Acute Kidney Injury and Anemia in Infants with Primary Hyperoxaluria: Two Case Reports

, 2019
Primary hyperoxaluria is a rare hereditary disease that usually presents with renal stone, nephrocalcinosis and renal insufficiency. Anemia is usually expected secondary to chronic kidney disease or bone marrow oxalosis following hyperoxalemia.
Vahhab, Elham, Shirazi Yeganeh, Babak, Fallahzadeh, Mohammad Amin, Fallahzadeh, Mohammad Hossein   +3 more
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Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review

Brazilian Journal of Nephrology
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, Monica Zuluaga, Lina Maria Serna Higuita, Adriana Florez, Diana Carolina Bello-Marquez, Arbey Aristizábal, Catalina Ocampo Kohn, Gustavo Adolfo Zuluaga   +7 more
doaj   +1 more source

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, Funda BAŞTUĞ, Sebahat TÜLPAR, Hakan POYRAZOĞLU, Hülya AKGÜN, Ruhan DÜŞÜNSEL   +5 more
doaj  

CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

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, Miren Barberia, Cristina Martin-Higueras, Natalia Zapata-Linares, Isabel Betancor, Saray Rodriguez, Rebeca Martinez-Turrillas, Laura Torella, Africa Vales, Cristina Olagüe, Amaia Vilas-Zornoza, Laura Castro-Labrador, David Lara-Astiaso, Felipe Prosper, Eduardo Salido, Gloria Gonzalez-Aseguinolaza, Juan R. Rodriguez-Madoz   +16 more
doaj   +1 more source

Recurrence of primary hyperoxaluria: An avoidable catastrophe following kidney transplant

, 2008
Primary hyperoxaluria is a rare autosomal recessive disease due to deficiency of an oxalate-metabolizing liver enzyme, which results in nephrolithiasis and renal failure.
Murlidharan, P, Madiwale, C, Hase, NK
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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, Simge Erbil2, Mümtaz Yılmaz   +2 more
doaj   +1 more source

Primary Hyperoxaluria Diagnosed Based on Bone Marrow Biopsy in Pancytopenic Adult with End Stage Renal Disease

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, Fereshteh Mohammadizadeh   +1 more
doaj   +1 more source

Multiomics Assessment of the Gut Microbiome in Rare Hyperoxaluric Conditions

Kidney International Reports
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, Chan Wang, Ze Chen, John C. Lieske, Dawn Milliner, Barbara Seide, Melody Ho, Huilin Li, Kelly V. Ruggles, Frank Modersitzki, David S. Goldfarb, Martin Blaser, Lama Nazzal   +12 more
doaj   +1 more source

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

, 2019
Primary hyperoxaluria type 2 is a rare inherited disorder of glyoxylate metabolism causing nephrocalcinosis, renal stone formation and ultimately kidney failure.
Garrelfs, Sander F, Groothoff, Jaap W, Lipkin, Graham W, Groothoff, Jaap W., Lipkin, Graham G.W., Oosterveld, Michiel J S, Salido, Eduardo, Cochat, Pierre, Hoppe, Bernd, Beck, Bodo Bernhard, Beck, Bodo B., Peters-Sengers, Hessel, Hulton, Sally-Anne, Lipkin, Graham W., Adams, Brigitte, Groothoff, Jaap, Garrelfs, Sander F., Hulton, Sally Anne, Erger, Florian, Pelle, Alessandra, Neuhaus, Thomas, Oosterveld, Michiel M.J.S., Beck, Bodo B, Rumsby, Gill, Garrelfs, Sander S.F., Oosterveld, Michiel J. S.   +25 more
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