For example, one of the screening tests used to detect galactosemia ... [5] Timing is critical for follow-up of abnormal newborn screening results. It is the clinician's responsibility to ...

Julie Luedtke managed Nebraska's Newborn Screening Program for 24 years before ... including a baby who died at eight days of age from galactosemia, the inability to process the sugar galactose ...

Galactosemia (G) is due to either partial or complete deficiency of the enzyme galactose-1-phosphate uridyl transferase (Ts). In females with G, there is a high incidence of premature ovarian ...

“The introduction of the Newborn Screening Programme can save infants ... Sickle Cell anaemia, thalassemia, galactosemia, biotinidase, cystic fibrosis, hearing loss and glucose 6 phosphate ...