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A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome

ABSTRACT Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting females and may start with seemingly normal early development but leads to developmental stagnation, regression, and characteristic neurological symptoms. While most cases involve MECP2 vari...

Adaptation of the molecular bacterial load assay for real-time quantification of Mycobacterium tuberculosis in the clinical routine laboratory

ABSTRACT Rapid quantification of Mycobacterium tuberculosis (Mtb) is important for monitoring bacterial load during treatment and in clinical studies. The molecular bacterial load assay detecting Mtb 16S ribosomal RNA (TB-MBLA) can quantify mycobacterial load within hours. As the...