Results 61 to 70 of about 4,332 (175)

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

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

Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report

Case Reports in Nephrology and Dialysis, 2018
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, Sharon Maynard, Dominick Santoriello, Henry Schairer   +3 more
doaj   +1 more source

Primary hyperoxaluria [PDF]

Journal of the Royal Society of Medicine, 1980
P F, O'Regan, A M, Joekes
openaire   +2 more sources

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, Ismat Ghanem, André Baradhi, Chebel Mourani, Samir Mallat, Fernand Dagher, Khalil Kharrat   +6 more
doaj   +1 more source

Late-onset retinal oxalosis in primary hyperoxaluria type 2

American Journal of Ophthalmology Case Reports
Purpose: To report a previously undescribed case of late-onset vision loss due to retinal oxalosis in a patient with primary hyperoxaluria type 2 (PH2).
Rupak Bhuyan, Tyler Maggio, Christie Thomas, Meenakshi Sambharia, Karen Gehrs, Timothy Boyce   +5 more
doaj   +1 more source

Primary hyperoxaluria [PDF]

Biochemical Journal, 1971
openaire   +4 more sources

Primary Hyperoxaluria

Annals of the Academy of Medicine, Singapore, 2010
Niranjan, Khandelwal, Kushaljit Singh, Sodhi, Vivek, Virmani, Navneet, Sharma   +3 more
openaire   +3 more sources