Results 51 to 60 of about 766 (123)

Additional file 1: of A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

, 2016
Homozygous regions detected in the genome of the two animals with renal syndrome (xanthinuria).
Cord DrĂśgemĂźller (3428597), Leonardo Murgiano (492751), Christian Piffer (551864), Vidhya Jagannathan (13914), Arcangelo Gentile (132262), Inmaculada Diez-Prieto (3521027), Marilena Bolcato (551861)   +6 more
core   +1 more source

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 598-623, July 2024.
Abstract Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute ...
Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout   +11 more
wiley   +1 more source

Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria

, 2012
Classical xanthinuria is a rare inherited metabolic disorder caused by either isolated xanthine dehydrogenase (XDH) deficiency (type I) or combined XDH and aldehyde oxidase (AO) deficiency (type II). XDH and AO are evolutionary related enzymes that share
Usher, Sali, Blackburn, Gavin, Landau, Daniel, Shalev, Hanna, Watson, David G., Lagziel, Ayala, Levartovsky, David, Peretz, Hava, Morad, Tova, Keren-Tardai, Elena, Greenshpun, Victoria, Zhang, Tong, Shtauber-Naamati, Meirav   +12 more
core   +2 more sources

The Probable Cause of Hypouricemia; Xanthinuria

, 2019
Kalıtımsal hipoürisemiye genellikle ksantinüri ve herediter renal hipoürisemi yol açmaktadır. Hipoürisemi serum ürik asit seviyesinin 2mg/dl’den düşük olması olarak tanımlanmaktadır.
Ferhan CANDAN, Murat GÜLLÜ, Kazım ÖZTÜRK, Yılmaz CANIM, Öztürk, Kazım, Uçar, Edip, Güllü, Murat, Canım, Yılmaz, Can HÜZMELİ, CANIM, YILMAZ, Hüzmeli, Can, ÖZTÜRK, KAZIM, Edip UÇAR, Candan, Ferhan   +13 more
core   +1 more source

Adaptable Xerogel-Layered Amperometric Biosensor Platforms on Wire Electrodes for Clinically Relevant Measurements

Sensors, 2019
Biosensing strategies that employ readily adaptable materials for different analytes, can be miniaturized into needle electrode form, and function in bodily fluids represent a significant step toward the development of clinically relevant in vitro and in
Lillian B. Hughes, Najwa Labban, Grace E. Conway, Julie A. Pollock, Michael C. Leopold   +4 more
doaj   +1 more source

A Trial of Favipiravir and Hydroxychloroquine combination in Adults Hospitalized with moderate and severe Covid-19: A structured summary of a study protocol for a randomised controlled trial

Trials, 2020
Objectives The selected combination was based on limited evidence clinically and in vitro on the efficacy of the Favipiravir and Hydroxychloroquine in SARS-CoV-2.
Mohammad Bosaeed, Ebrahim Mahmoud, Mohammad Hussein, Ahmad Alharbi, Abdulrahman Alsaedy, Adel Alothman, Majed Aljeraisy, Hajar Alqahtani, Marwan Nashabat, Badriah Almutairi, Manar Almaghaslah, Omar Aldibasi, Sameera AlJohani, Abderrezak Bouchama, Yaseen Arabi, Ahmad Alaskar   +15 more
doaj   +1 more source

Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria

, 2011
Classical xanthinuria is a rare inherited metabolic disorder caused by either isolated xanthine dehydrogenase (XDH) deficiency (type I) or combined XDH and aldehyde oxidase (AO) deficiency (type II). XDH and AO are evolutionary related enzymes that share
Meirav Shtauber-Naamati, Daniel Landau, Blackburn, Gavin, Lagziel, Ayala, Sali Usher, Morad, Tova, Ayala Lagziel, Gavin Blackburn, Zhang, Tong, Shtauber-Naamati, Meirav, Usher, Sali, Tova Morad, David Levartovsky, Landau, Daniel, Shalev, Hanna, David G. Watson, Watson, David G., Tong Zhang, Levartovsky, David, Peretz, Hava, Keren-Tardai, Elena, Elena Keren-Tardai, Victoria Greenshpun, Greenshpun, Victoria, Hava Peretz, Hanna Shalev   +25 more
core   +1 more source

Xanthinuria secondary to allopurinolt therapy in dogs with canine leishmaniosis : current perspectives of the Iberian Veterinary Community

, 2021
Dissertação de Mestrado Integrado em Medicina VeterináriaA xantinúria é o maior efeito adverso urinário em cães com leishmaniose tratados com alopurinol.
Jesus, Laura Caparica Ferreira de
core   +1 more source

Glasgow Early Treatment Arm Favirpiravir (GETAFIX) for adults with early stage COVID-19: A structured summary of a study protocol for a randomised controlled trial

Trials, 2020
Objectives The GETAFIX trial will test the hypothesis that favipiravir is a more effective treatment for COVID-19 infection in patients who have early stage disease, compared to current standard of care.
Catherine R. Hanna, Kevin G. Blyth, Glenn Burley, Samantha Carmichael, Carol Evans, Samantha Hinsley, Ibrahim Khadra, Saye Khoo, Liz-Anne Lewsley, Robert R. Jones, Raman Sharma, Andrea Taladriz-Sender, Emma C. Thomson, Janet T. Scott   +13 more
doaj   +1 more source

Mutational Analysis Of The Xanthine Dehydrogenase Gene In A Turkish Family With Autosomal Recessive Classical Xanthinuria

, 2003
Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase.
Ichida, K, Gok, F, Topaloglu, R
core   +1 more source