Zusammenfassung
Die klassische Homocystinurie, erstmals 1962 beschrieben, wird durch einen Defekt der Cystathionin- 3-Synthase (EC 4.2.1.22) verursacht, wodurch der HomocysteinAbbau gestört wird. Die Vererbung erfolgt autosomal rezessiv.
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Lukacs, Z. (2001). Homocystinurie. In: Screening auf angeborene endokrine und metabole Störungen. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6252-1_31
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DOI: https://doi.org/10.1007/978-3-7091-6252-1_31
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