Browsing Enstitüler by Publisher "Springer-Verlag Berlin"
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Identification Of Mutations And Evaluation Of Cardiomyopathy In Turkish Patients With Primary Carnitine Deficiency
(Springer-Verlag Berlin, 2012)Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by defective cellular carnitine transport. Patients usually present with predominant metabolic or cardiac manifestations. SCD is caused ...