The American Academy of Pediatrics recommends all newborns undergo screening for metabolic conditions like phenylketonuria (PKU), maple syrup urine disease (MSUD), and mitochondrial trifunctional ...

This results in nerve damage, and the urine smells like syrup ... technology has led many states to expand newborn screening for genetic metabolic disorders. The National Newborn Screening ...

The Metabolic Disease Laboratory provides services for the diagnosis of lysosomal storage diseases. The laboratory provides screening of urine for glycosaminoglycans, oligosaccharides, sialic acid, ...

To facilitate our strategy, we developed the isolation, culture, amplification and reprogramming of progenitor cells derived from urine samples (UCell). After reprogramming the hiPS cells (UhiPS), ...

Definition Maple syrup urine disease (MSUD) is a rare metabolic disorder that some ... Doctors diagnose classic MSUD with a newborn screening (blood test) soon after the baby is born.