Results 31 to 40 of about 5,205 (214)

Probiotics in urolithiasis

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, Adam Alzubedi, Joanna Popiołek, Michał Konopelko   +3 more
doaj   +3 more sources

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, Jiwon M. Lee, Ji Hyun Kim, Myung Hyun Cho, Seong Heon Kim, Joo Hoon Lee, Young Seo Park, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong   +9 more
doaj   +1 more source

Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: A novel type of primary hyperoxaluria.

, 1996
Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: A novel type of primary hyperoxaluria. Considering the clinical heterogeneity of primary hyperoxaluria type I (PH1) and the fact that in many instances this ...
van Acker, K. J., Roels, Frank, Espeel, Marc F., WANDERS, RJA, Dekker, C., Kerckaert, Ingrid O., Kerckaert, I. O., Espeel, M. F., Dekker, Conny, Espeel, Marc, EYSKENS, FJ, van Acker, Karel J.M., Eyskens, F. J., Eyskens, François J., Van Acker, Karel J., Eyskens, Fran\ue7ois, Wanders, Ronald J.A., Roels, F., VANACKER, KJ, DEKKER, C, Wanders, R. J., Kerckaert, Ingrid   +21 more
core   +1 more source

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, Manel Jellouli, Rym Maamouri, Tahar Garagah   +3 more
doaj   +1 more source

Primer hyperoxaluria. Tények és perspektívák = Primary hyperoxaluria. Facts and perspectives

, 2022
A primer hyperoxaluria ritka anyagcsere-betegség. A glioxilát anyagcserezavara miatt nagy mennyiségű oxalát keletkezik, amely – mivel rosszul oldódik – a szövetekben oxalátkicsapódáshoz, oxalosishoz vezet.
Szabó J., Attila, Kelen, Kata, Dezsőfi-Gottl, Antal, Maka, Erika, Jávorszky, Eszter, Dobi, Deján, Sallay, Péter, Reusz, György, Nyikuly, Kinga, Szatmári, Ildikó, Lódi, Csaba, Várkonyi, Ildikó, Tory, Kálmán, Mikes, Bálint, Máttyus, István, Kaucsár, Tamás   +15 more
core   +1 more source

A stone in the bone

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, Pierre Cochat, Sebastien Kissling, Nicolas Dattner, Laurence deLeval, Fadi Fakhouri, Menno Pruijm, Olivier Bonny   +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, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1

, 2018
Primary hyperoxaluria type 1 (PH1) is a rare life-threatening genetic disease related to glyoxylate metabolism and characterized by accumulation of calcium oxalate crystals.
Moya-Garzón, María Dolores, Salido, Eduardo, Gómez-Vidal, José A, Martín Higueras, Cristina, Fernandes, Miguel X., Díaz-Gavilán, Mónica, Romera, Manuela, Peñalver, Pablo, Franco-Montalbán, Francisco   +8 more
core   +1 more source

Pathophysiology and Management of Hyperoxaluria and Oxalate Nephropathy: A Review.

, 2022
Hyperoxaluria results from either inherited disorders of glyoxylate metabolism leading to hepatic oxalate overproduction (primary hyperoxaluria), or increased intestinal oxalate absorption (secondary hyperoxaluria).
Jadoul, Michel, Demoulin, Nathalie, Aydin, Selda, Morelle, Johann, Gillion, Valentine   +4 more
core   +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, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source