Results 91 to 100 of about 7,602 (197)

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

Highly selective and sensitive macrocycle-based dinuclear foldamer for fluorometric and colorimetric sensing of citrate in water. [PDF]

, 2018
The selective detection of citrate anions is essential for various biological functions in living systems. A quantitative assessment of citrate is required for the diagnosis of various diseases in the human body; however, it is extremely challenging to ...
Alamgir, Azmain, Hasan, Mohammad H, Hossain, Md Alamgir, Powell, Douglas R, Rhaman, Md Mhahabubur, Tandon, Ritesh, Wong, Bryan M, Xu, Lihua   +7 more
core   +3 more sources

Primary hyperoxaluria [PDF]

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

ヒト肝におけるセリン：グリオキシル酸変換酵素活性によるアラニン：グリオキシル酸変換酵素の測定 [PDF]

, 2010
浜松医科大学学位論文　医博論第479号 ...
7462, 永田, 仁夫
core   +2 more sources

Metabolic evaluation of children with urolithiasis

Urology Annals, 2018
Aim: The aim of the study is to identify the prevalence of metabolic abnormalities in children with urolithiasis. Materials and Methods: This is a prospective study; all children below 15 years who are found to have urolithiasis were prospectively ...
Vijayabhaskar Reddy Gouru, Vedamurthy Reddy Pogula, Surya Prakash Vaddi, Venu Manne, Ranadheer Byram, Lalith Sagar Kadiyala   +5 more
doaj   +1 more source

Characterization and Some Physicochemical Aspects of Pathological Microcalcifications [PDF]

, 2012
Several major diseases, such as cancer and cardiovascular abnormalities, may be linked to pathological deposition of minerals or organic compounds in various tissues. Thus, the detection of such minerals or compounds and understanding the physicochemical
Bazin, Dominique, Combes, Christèle, Daudon, Michel, Rey, Christian   +3 more
core   +3 more sources

Secondary oxalosis due to excess vitamin C intake: A cause of graft loss in a renal transplant recipient

Saudi Journal of Kidney Diseases and Transplantation, 2014
Renal oxalate deposition can be seen with primary hyperoxaluria, malabsorptive states, ethylene glycol toxicity and, rarely, with excessive vitamin C ingestion.
S Yaich, Y Chaabouni, K Charfeddine, S Zaghdane, M Kharrat, K Kammoun, S Makni, T Boudawara, J Hachicha   +8 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  

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

Lumasiran in the Management of Patients with Primary Hyperoxaluria Type 1: From Bench to Bedside

International Journal of Nephrology and Renovascular Disease, 2022
Viola D’Ambrosio,1,2 Pietro Manuel Ferraro1,2 1U.O.S. Terapia Conservativa della Malattia Renale Cronica, U.O.C. Nefrologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia; 2Dipartimento
D'Ambrosio V, Ferraro PM
doaj