Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kristel Goossens"'
Autor:
Eva-Leonne Göttgens, Adriaan J. van Gammeren, Kristian Baks, Cornelis L. Harteveld, Kristel Goossens
Publikováno v:
Hematology, 26(1), 914-918. TAYLOR & FRANCIS LTD
We describe a first Dutch case of Hb M Saskatoon (HBB:c.190C > T p.His64Tyr) in a 47-year-old female Dutch patient who presented with cyanosis, hemolysis, and abnormal co-oximetry. A mean corpuscular volume (MCV) of 105 fL caused by reticulocytosis (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a13109867d6df4d508346b2ba0e19e27
https://doi.org/10.1080/16078454.2021.1999048
https://doi.org/10.1080/16078454.2021.1999048
Autor:
Kristel Goossens, Stenvert L. S. Drop, M. A. Timmerman, Frank H. de Jong, Katja P. Wolffenbuttel, Sultana M.H. Faradz, Achmad Zulfa Juniarto
Publikováno v:
Clinical Endocrinology, 71, 628-635. Wiley-Blackwell Publishing Ltd
Summary Background Mutations in CYP21A2 lead to deficiency of 21-hydroxylase and can have either severe or moderate effects on phenotype, which can be prevented by early treatment. We studied long-term effects of this deficiency on phenotype in patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77a785a8691716793337e1c01e142433
https://doi.org/10.1111/j.1365-2265.2009.03550.x
https://doi.org/10.1111/j.1365-2265.2009.03550.x
