Zobrazeno 1 - 10
of 314
pro vyhledávání: '"Transferase deficiency"'
Publikováno v:
Indian Journal of Dermatology, Vol 60, Iss 3, Pp 298-300 (2015)
Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation. Hereby, we report a case of LNS in a three and half-year-old male child, who presented with character
Externí odkaz:
https://doaj.org/article/0778a21c8301418e91f5f61f2d071e21
Akademický článek
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Publikováno v:
Archives of Clinical Nephrology. :001-005
APRT deficiency is a rare but under recognized genetic disease. Recurrent urolithiasis and DHA nephropathy are the two clinical manifestations of APRT deficiency and diagnosis can be made at any age and recurs after renal transplant. Allopurinol is t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b7de07bc0bd67000844335d41225cbf
https://doi.org/10.17352/acn.000049
https://doi.org/10.17352/acn.000049
Publikováno v:
Hamdan Medical Journal, Vol 13, Iss 4, Pp 222-225 (2020)
Background: Autosomal recessive disorders are the most common forms of hereditary diseases in consanguineous populations. Despite their frequencies, the diagnosis of these disorders continues to be a challenging task, given their extreme genetic hete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::4c3039520e1401395b5772525b5351f3
http://www.hamdanjournal.org/article.asp?issn=2227-2437
http://www.hamdanjournal.org/article.asp?issn=2227-2437
Publikováno v:
Indian Journal of Nephrology
Indian Journal of Nephrology, Vol 30, Iss 4, Pp 290-292 (2020)
Indian Journal of Nephrology, Vol 30, Iss 4, Pp 290-292 (2020)
Adenine phosphororibosyl transferase (APRT) deficiency, a rare inborn error of metabolism is inherited as an autosomal recessive trait. It presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy and recurrent nephrolithiasis and often progre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7cb6d251a1ad1c2c4ee3b6f1fd15d7b
http://europepmc.org/articles/PMC7699657
http://europepmc.org/articles/PMC7699657
Autor:
Marie Adrianne Pimentel
Publikováno v:
International Journal of Clinical Studies and Medical Case Reports. 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4795b39ab30c81e94782602366206c4c
https://doi.org/10.46998/ijcmcr.2021.10.000227
https://doi.org/10.46998/ijcmcr.2021.10.000227
Akademický článek
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Publikováno v:
Journal of Pediatric Intensive Care. :062-066
We describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. She presented with lethargy, tachypnea, and hyperpnea with hypoglycemia and a severe anion gap metabolic acidosis. Early manag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1ee63d82e69146fe52e4fe7278081d
https://doi.org/10.1055/s-0037-1604270
https://doi.org/10.1055/s-0037-1604270
Autor:
Elsayed Abdelkreem, Yuji Sekine, Osamu Ohara, Yuka Aoyama, Hideo Sasai, Toshiyuki Fukao, Hidenori Ohnishi, Yasuhiro Naiki, Mitsuru Kubota, Ryoji Fujiki, Hiroki Otsuka, Mina Nakama, Masatsune Itoh
Publikováno v:
Journal of Inherited Metabolic Disease. 40:845-852
Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, including neonatal periods. More than 30 pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8544348de2ed04bbbef1806d1a12a35d
https://doi.org/10.1007/s10545-017-0065-z
https://doi.org/10.1007/s10545-017-0065-z
