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of 4
pro vyhledávání: '"Afro‐Asian stone‐forming belt"'
Autor:
Hava Peretz, Michael Korostishevsky, David M. Steinberg, Mustafa Kabha, Sali Usher, Irit Krause, Hannah Shalev, Daniel Landau, David Levartovsky
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 45-52 (2020)
Abstract Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity. Variants in the XDH or HMCS gene underli
Externí odkaz:
https://doaj.org/article/4b3823acbf6f42c58b33cb8b0c6f9357
Autor:
Daniel Landau, David M. Steinberg, Hava Peretz, Michael Korostishevsky, Sali Usher, David Levartovsky, Mustafa Kabha, Irit Krause, Hannah Shalev
Publikováno v:
JIMD Reports
JIMD Reports, Vol 51, Iss 1, Pp 45-52 (2020)
JIMD Reports, Vol 51, Iss 1, Pp 45-52 (2020)
Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity. Variants in the XDH or HMCS gene underlie classic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::942377d4453654b8eaeb2e3ede1af34a
https://doi.org/10.1002/jmd2.12077
https://doi.org/10.1002/jmd2.12077
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Autor:
Peretz H; Clinical Biochemistry Laboratory Sourasky Medical Center Tel Aviv Israel.; Human Molecular Genetics and Biochemistry, Sackler School of Medicine Tel Aviv University Tel Aviv Israel., Korostishevsky M; Department of Anatomy and Anthropology, Sackler School of Medicine Tel Aviv University Tel Aviv Israel., Steinberg DM; Department of Statistics and Operations Research Tel Aviv University Tel Aviv Israel., Kabha M; Department of History, Philosophy and Judaic Studies The Open University of Israel Ranana Israel., Usher S; Clinical Biochemistry Laboratory Sourasky Medical Center Tel Aviv Israel., Krause I; Department of Pediatrics C, Schneider Children's Medical Center, Petach Tikva, Sackler School of Medicine Tel Aviv University Tel Aviv Israel., Shalev H; Department of Pediatrics, Soroka Medical Center Ben Gurion University of the Negev Beer Sheva Israel., Landau D; Department of Pediatrics B, Schneider Children's Medical Center, Sackler School of Medicine Tel Aviv University Tel Aviv Israel., Levartovsky D; Department of Rheumatology, Tel Aviv Sourasky Medical Center Sackler School of Medicine, Tel Aviv University Tel Aviv Israel.
Publikováno v:
JIMD reports [JIMD Rep] 2019 Dec 05; Vol. 51 (1), pp. 45-52. Date of Electronic Publication: 2019 Dec 05 (Print Publication: 2020).