Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Hereditary xanthinuria"'
Akademický článek
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Autor:
Nicole M. Tate, Katie M. Minor, Jody P. Lulich, James R. Mickelson, Allyson Berent, Jonathan D. Foster, Kasey H. Petersen, Eva Furrow
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100792- (2021)
Hereditary xanthinuria is a rare autosomal recessive disease caused by missense and loss of function variants in the xanthine dehydrogenase (XDH) or molybdenum cofactor sulfurase (MOCOS) genes. The aim of this study was to uncover variants underlying
Externí odkaz:
https://doaj.org/article/d0d68e09b2a84a188ca82aec80814820
Publikováno v:
PAMJ Clinical Medicine, Vol 1, Iss 55 (2019)
The xanthinuria is a rare hereditary autosomal recessive disease. It is related to xanthine oxidase deficiency also known as xanthine dehydrogenase, an enzyme involved in the metabolism of purine bases. In this work, we describe the first cases of he
Externí odkaz:
https://doaj.org/article/69fe52ce78f847f1a1bc9cdb3f536dcd
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Shuichi Tsuruoka, Koji Nagata, Ken Okamoto, Daisuke Miyamoto, Blanka Stiburkova, Ivan Sebesta, Sarka Blahova, Kimiyoshi Ichida, Nana Sato
Publikováno v:
Nucleosides, Nucleotides & Nucleic Acids. 39:1432-1439
Renal hypouricemia sometimes leads to exercise-induced acute kidney injury (EIAKI) of unknown pathogenesis. In order to elucidate the various pathological conditions associated with hypouricemia, we analyzed the effects of low uric acid level on ener
Autor:
Nicole M, Tate, Katie M, Minor, Jody P, Lulich, James R, Mickelson, Allyson, Berent, Jonathan D, Foster, Kasey H, Petersen, Eva, Furrow
Publikováno v:
Molecular Genetics and Metabolism Reports
Hereditary xanthinuria is a rare autosomal recessive disease caused by missense and loss of function variants in the xanthine dehydrogenase (XDH) or molybdenum cofactor sulfurase (MOCOS) genes. The aim of this study was to uncover variants underlying
Publikováno v:
PAMJ Clinical Medicine, Vol 1, Iss 55 (2019)
The xanthinuria is a rare hereditary autosomal recessive disease. It is related to xanthine oxidase deficiency also known as xanthine dehydrogenase, an enzyme involved in the metabolism of purine bases. In this work, we describe the first cases of he
Publikováno v:
Indian Pediatrics
Autor:
Mohammed Chemsi, Asmaa Biaz, Samira El Machtani-Idrissi, Sophia Tazi, Sanae Bouhsain, Abdellah Dami
Publikováno v:
Clinical Laboratory. 66
Hereditary xanthinuria was the first inherited purine metabolism disorder described. It is a rare pathology, which is most often asymptomatic and whose incidence is therefore underestimated. We report the case of a patient with an undetectable level
Autor:
Milena Ivanova, Dobromir Tanev, Tzvetan Alaikov, Parvoleta Peteva, Anthony M. Marinaki, Velizar Shivarov, Lynette D. Fairbanks
Publikováno v:
JCR: Journal of Clinical Rheumatology. 26:e49-e52