Results 21 to 30 of about 4,332 (175)
The Struggling Odyssey of Infantile Primary Hyperoxaluria
Frontiers in Pediatrics, 2021 Introduction: Oxalate overproduction in Primary Hyperoxaluria type I (PH1) leads to progressive renal failure and systemic oxalate deposition. In severe infantile forms of PH1 (IPH1), end-stage renal disease (ESRD) occurs in the first years of life ...
Adrien Guillaume +6 more
doaj +1 more source
Primary Hyperoxaluria in Korean Pediatric Patients [PDF]
Childhood Kidney Diseases, 2019 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
Journal of Education, Health and Sport, 2018 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
New England Journal of Medicine, 2017 Hyperoxaluria is characterized by nephrolithasis and nephrocalcinosis caused by supersaturation of calcium oxalate in the urine. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Herein, we report a case of primary hyperoxaluria which is a serious though rare condition, can be suspected on the basis of ...
Dapeng, Jiang, Hongquan, Geng
openaire +4 more sources
Unusual cause of cerebral calcifications in an 8‐year‐old girl
Clinical Case Reports, 2023 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
JIMD Reports, 2021 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
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe
British Journal of Clinical Pharmacology, EarlyView.Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis +4 more
wiley +1 more source
Journal of Cutaneous Pathology, EarlyView.ABSTRACT Cutaneous oxalosis is an uncommon manifestation of primary hyperoxalosis, which can often resemble other cutaneous manifestations of end stage renal disease (ESRD), particularly calciphylaxis. We report the case of a 46 year old female with primary hyperoxaluria type one (PH1) believed to be well‐controlled on lumasiran, a small interfering ...
Shrina Patel +3 more
wiley +1 more source
Canadian Journal of Kidney Health and Disease, 2015 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