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pro vyhledávání: '"Warsha Kanhai"'
Autor:
Muhammad Wasim, Haq N. Khan, Hina Ayesha, Mazhar Iqbal, Abdul Tawab, Muhammad Irfan, Warsha Kanhai, Susanna M. I. Goorden, Lida Stroomer, Gajja Salomons, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli R. Awan
Publikováno v:
Journal of pediatric endocrinology & metabolism, 35(3), 325-332. Walter de Gruyter GmbH
Background Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by CBS) deficiency. Symptoms of untreated classical HCU patients include intellectual disab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ebd9ea5c2cc5c279f5a7be47f4b1aa0
https://pure.amc.nl/en/publications/identification-of-three-novel-pathogenic-mutations-in-cystathionine-betasynthase-gene-of-pakistani-intellectually-disabled-patients(7b1bd1e5-63da-482c-a0a5-b812b941cdc4).html
https://pure.amc.nl/en/publications/identification-of-three-novel-pathogenic-mutations-in-cystathionine-betasynthase-gene-of-pakistani-intellectually-disabled-patients(7b1bd1e5-63da-482c-a0a5-b812b941cdc4).html