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Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
by Kožich, Viktor (Author)
, Sokolová, Jitka (Author)
, Morris, Andrew A. M. (Author)
, Pavlíková, Markéta (Author)
, Gleich, Florian (Author)
, Kölker, Stefan (Author)
, Krijt, Jakub (Author)
, Dionisi-Vici, Carlo (Author)
, Baumgartner, Matthias R. (Author)
, Blom, Henk J. (Author)
, Huemer, Martina (Author)
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Journal of inherited metabolic disease, 44 (2021), 3, Seite 677-692
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Medical history screening for thrombophilic risk: is this adequate?
by Eggert-Kruse, Waltraud (Author)
, Ziegler, Andrea (Author)
, Horlbeck, Sandra (Author)
, Strowitzki, Thomas (Author)
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Fertility and sterility, 95 (2011), 6, Seite 1917-1921
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Baumgartner, Matthias R.
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Blom, Henk J.
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Dionisi-Vici, Carlo
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thromboembolism
APC resistance screening
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blood coagulation
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developmental delay
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factor V Leiden mutation
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