Urea cycle disorders (UCD) are inherited defects in clearance of waste nitrogen with high
morbidity and mortality. Novel and more effective therapies for UCD are needed. Studies in …

Diagnosing a large group of inborn errors of metabolism poses a great challenge for
physicians due to the mostly non-specific clinical picture. Therefore, laboratory methods …

Since l-argininosuccinic acid (ASA) is the characteristic biomarker for the diagnosis of
certain diseases, its reliable detection in complex biological samples is necessary to obtain …

Приведен краткий обзор одного из методов неонатального скрининга, в основе
которого лежит тандемная масс-спектрометрия. Обнаруживаемые нарушения обмена …