The Newborn Screening Laboratory at the Wisconsin State Laboratory of Hygiene (WSLH) tests all newborn babies in the state of Wisconsin for 26 congenital disorders. The screening is mandated by state statute (253.13) and attempts to identify those babies at highest risk for any of the screened-for congenital disorders. The Newborn Screening Laboratory at the WSLH is part of the state's newborn screening program, a cooperative effort between the Wisconsin Department of Health and Family Services, state birthing hospital staff, several public and private specialty clinics, primary care providers, and parents. Screening occurs within the first hours (median 38 hours) of life when a few drops of blood from the baby's heel is collected, applied to a special paper, dried, and sent to the WSLH for analysis. Those babies determined to have at-risk test results get repeat testing to confirm the initial test results and, if warranted, the baby is referred to a specialty clinic for a diagnostic work-up and treatment if necessary. Since its inception in the early 1960s, newborn screening in Wisconsin has saved approximately 1300 children from serious mental or other medical problems.
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BMC Pregnancy Childbirth
January 2025
Centre for Innovative Drug Development and Therapeutic Trials for Africa (CDT Africa), College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
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National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy.
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Internal Medicine, Thumbay University Hospital, Ajman, ARE.
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View Article and Find Full Text PDFIndian J Endocrinol Metab
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Department of Endocrinology, Madurai Medical College and Govt. Rajaji Hospital, Madurai, Tamil Nadu, India.
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