Results 21 to 30 of about 260 (87)
Primary hyperoxaluria in infants
Saudi Journal of Kidney Diseases and Transplantation, 2016 The infantile form of primary hyperoxaluria type-1 (PH-1) is characterized by a rapid progression to the end-stage renal disease (ESRD) due to both increased oxalate load and reduced glomerular filtration rate.
Manel Jellouli +6 more
doaj +1 more source
Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals
Hematology/Oncology and Stem Cell Therapy, 2018 We present a rare case of anaemia secondary to bone marrow infiltration by oxalate crystals and renal failure in a patient diagnosed with primary hyperoxaluria. In our case, the anaemia was recovered after the double liver and kidney transplantation, the
Vitaliy Mykytiv, Fiz Campoy Garcia
doaj +1 more source
Journal of Nepal Medical Association, 2017 Primary hyperoxaluria type 1 is an autosomal recessive hereditary glyoxylate metabolism disorder characterized by excessive production of oxalate, caused by the deficiency of liver specific peroxisomal enzyme: alanineglyoxylate aminotransferase.
Ren Qingqi +5 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
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
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
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