Results 21 to 30 of about 4,024 (132)
Primary Hyperoxaluria in Korean Pediatric Patients [PDF]
Background Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1–3 (PH1–PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively.
Yunsoo Choe +9 more
doaj +1 more source
Urolithiasis is considered a civilization disease. The prevalence is estimated at 5-20% of the population. There are many litogenesis risk factors such as hypercalciuria, hypophosphaturia, low urine pH or increased excretion of oxalates with urine - a ...
Monika Kusz +3 more
doaj +3 more sources
Unusual cause of cerebral calcifications in an 8‐year‐old girl
Key Clinical Message Genetic counseling and genetic screening for hyperoxaluria should be recommended for children with urinary lithiasis for early management to avoid progression to oxalosis especially if there is a family history of lithiasis.
Abir Boussetta +3 more
doaj +1 more source
Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated.
Matthieu Halfon +7 more
doaj +1 more source
Scanning electron microscopy—a powerful imaging technique for the clinician
Since its first use several decades ago, scanning electron microscopy has been used in numerous investigations dedicated to biological systems. This contribution focuses on observations on pathological calcifications in order to review several major ...
Bazin, Dominique +7 more
doaj +1 more source
The long pentraxin 3 (PTX3) exerts a variety of regulatory functions in acute and chronic tissue inflammation. In particular, PTX3 acts as an opsonin for a variety of pathogens and endogenous particles.
Julian A. Marschner +13 more
doaj +1 more source
A hidden cause of oxalate nephropathy: a case report
Background Oxalate nephropathy is a rare disorder that can result in acute kidney injury (AKI) and progresses to end-stage kidney disease (ESKD). The causes can be either primary or secondary.
Tala Mahmoud +2 more
doaj +1 more source
Purpose of review: To provide transplant physicians with a summary of the pathogenesis and diagnosis of adenine phosphoribosyl transferase (APRT) deficiency and primary hyperoxaluria and, focussed on kidney transplantation, and to discuss interventions ...
Guillaume Bollée +2 more
doaj +1 more source
Key Clinical Message Cutaneous oxalosis is a rare manifestation of systemic oxalosis, typically associated with primary or secondary hyperoxaluria. We present a rare case of a 23‐year‐old female diagnosed with primary hyperoxaluria and end‐stage renal ...
Hadi Alabdullah +2 more
doaj +1 more source
Vitamin C-Induced Oxalate Nephropathy
Although a multitude of syndromes have been thoroughly described as a result of vitamin deficiencies, over consumption of such substances may also be quite dangerous.
Jorge Lamarche +3 more
doaj +1 more source

