Results 91 to 100 of about 7,701 (216)

Pnc1 piggy-back import into peroxisomes relies on Gpd1 homodimerisation. [PDF]

, 2017
Peroxisomes are eukaryotic organelles that posttranslationally import proteins via one of two conserved peroxisomal targeting signal (PTS1 or 2) mediated pathways.
Al-Hejjaj, M.Y., Baker, P., Hettema, E.H., Hutchinson, J.D., Saryi, N.A., Sedelnikova, S.   +5 more
core   +1 more source

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

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  

Mechanisms of human kidney stone formation [PDF]

, 2014
The precise mechanisms of kidney stone formation and growth are not completely known, even though human stone disease appears to be one of the oldest diseases known to medicine.
Coe, Fredric L., Evan, Andrew P., Lingeman, James E., Williams, James, Worcester, Elaine M.   +4 more
core   +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

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 Type 1: organic aciduria diagnosed in plasma [PDF]

, 2013
Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase.
Dias, Aureliano, Rodrigues, Marilia, Valongo, Carla, Vilarinho, Laura   +3 more
core  

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