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ERGEBNISSE"},{"canvases":["https://noah.nrw/i3f/v20/4293484/canvas/4734007","https://noah.nrw/i3f/v20/4293484/canvas/4734008"],"@id":"https://noah.nrw/i3f/v20/4293484/range/4734006","@type":"sc:Range","label":"Im Rahmen der vorliegenden Arbeit wurde ein Patientenkollektiv betrachtet, das sich aus 39 Personen zusammensetzt. Darunter sind 18 Patientinnen (46%) und 21 Patienten (54%). Eine Konsanguinit\u00e4t der Eltern ist in 3 Familien bekannt. Die meisten Patienten sind deutscher Herkunft. Eine Patientin ist deutsch-t\u00fcrkischer Abstammung, ein Geschwisterpaar ist t\u00fcrkisch. Ein weiteres Geschwister-paar kommt aus dem Libanon, eine Familie stammt aus Kroatien. 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Wenn der Zeitpunkt der Diagnose und entsprechend der Therapiebeginn weniger als ein Jahr zur\u00fccklag, wurde stattdessen ein Durchschnittswert aus allen seit Therapiebeginn erhobene"},{"canvases":["https://noah.nrw/i3f/v20/4293484/canvas/4734049","https://noah.nrw/i3f/v20/4293484/canvas/4734050","https://noah.nrw/i3f/v20/4293484/canvas/4734051","https://noah.nrw/i3f/v20/4293484/canvas/4734052","https://noah.nrw/i3f/v20/4293484/canvas/4734053","https://noah.nrw/i3f/v20/4293484/canvas/4734054","https://noah.nrw/i3f/v20/4293484/canvas/4734055","https://noah.nrw/i3f/v20/4293484/canvas/4734056"],"@id":"https://noah.nrw/i3f/v20/4293484/range/4734048","@type":"sc:Range","label":"3.4.3.3 Stoffwechsellage in Abh\u00e4ngigkeit vom Vitamin B6-Response"},{"canvases":["https://noah.nrw/i3f/v20/4293484/canvas/4734058"],"@id":"https://noah.nrw/i3f/v20/4293484/range/4734057","@type":"sc:Range","label":"4.2.2\tLinsenluxation"},{"canvases":["https://noah.nrw/i3f/v20/4293484/canvas/4734060","https://noah.nrw/i3f/v20/4293484/canvas/4734061"],"@id":"https://noah.nrw/i3f/v20/4293484/range/4734059","@type":"sc:Range","label":"Die Linsenluxation war im hier dargestellten Kollektiv mit insgesamt 63% h\u00e4ufigstes initiales Leitsymptom, welches zu einer genaueren Abkl\u00e4rung einer HCU f\u00fchrte. Mit etwa 71% war sie Leitsymptom bei den Vitamin B6-Respondern, mit 50% war dies bei den non-responsiven Patienten seltener der Fall. In vorangehenden Studien zeigte sich ebenfalls als initiales Leitsymptom in den meisten F\u00e4llen eine Linsenluxation selbst oder eine der Linsenluxation h\u00e4ufig vorangehende hochgradige Myopie (Mudd et al. 1985). Daher "},{"canvases":["https://noah.nrw/i3f/v20/4293484/canvas/4734063"],"@id":"https://noah.nrw/i3f/v20/4293484/range/4734062","@type":"sc:Range","label":"Eine Einschr\u00e4nkung der Aussagekraft des Vergleiches von Symptom-Pr\u00e4valenzen innerhalb verschiedener Studienkollektive ergibt sich durch die vernachl\u00e4ssigte unterschiedliche Altersverteilung innerhalb der Kollektive, da sich die Symptome in typischen Altersklassen bevorzugt entwickeln. Unterschiedliche Diagnosekriterien und Untersuchungsverfahren bez\u00fcglich der klinischen Symptome k\u00f6nnen ebenfalls Einfluss auf das Ergebnis nehmen. 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