Results 91 to 100 of about 7,704 (220)

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

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

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  

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

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
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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

Variability in urinary oxalate measurements between six international laboratories [PDF]

, 2017
Background. Hyperoxaluria is a major risk factor for kidney stone formation. Although urinary oxalate measurement is part of all basic stone risk assessment, there is no standardized method for this measurement. Methods.
Adams Huet, Beverley, Asplin, John R., Bonny, Olivier, Frey, Felix J., Hesse, Albrecht, Holmes, Ross P., Knight, John, Lieske, John C., Maalouf, Naim M., Nuoffer, Jean-Marc, Pasch, Andreas, Siener, Roswitha, Zerwekh, Joseph E.   +12 more
core  

Effect of calcium intake on urinary oxalate excretion in calcium stone-forming patients [PDF]

, 2002
Dietary calcium lowers the risk of nephrolithiasis due to a decreased absorption of dietary oxalate that is bound by intestinal calcium. The aim of the present study was to evaluate oxaluria in normocalciuric and hypercalciuric lithiasic patients under ...
Heilberg, Ita Pfeferman, Martini, Lígia Araújo, Mendonça, C.o.g., Nishiura, José Luiz, Schor, Nestor   +4 more
core   +3 more sources

Early renal failure after domino hepatic transplantation using the liver from a compound heterozygous patient with primary hyperoxaluria [PDF]

, 2017
Background. To cover the shortage of cadaveric organs, new approaches to expand the donor pool are needed. Here we report on a case of domino liver transplantation (DLT) using an organ harvested from a compound heterozygous patient with primary ...
Candinas, Daniel, Farese, Stefan, Huynh-Do, Uyen, Trost, Nicolas   +3 more
core  

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