ARCHIMEDlife News
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Newborn Screening Awareness Month: Expanded Newborn Screening for dozens of metabolic diseases
ARCHIMEDlife News September 1, 2017September is Newborn Screening Awareness Month. Not only throughout this time we like to remind you, that you can easily test your baby for dozens… Read more -
Now published: A consensus guideline for newborn screening by mass spectrometry
An updated Consensus Guideline by worldwide experts is now available: See the publication of CLSI document NBS04-Ed2, Newborn Screening by Tandem Mass Spectrometry. The document… Read more -
Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving
Background: Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications,… Read more -
Detect Severe combined immunodeficiency (SCID) early at birth!
ARCHIMEDlife News June 21, 2017We offer TREC (T-cell receptor excision circle) DNA testing from Dried Blood Spots to aid in screening newborns for Severe Combined Immunodeficiency (SCID). SCID is… Read more -
Correlation of Lyso-Gb3 levels in Patients with Classic and Later-Onset Fabry
Background: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates,… Read more -
Metabolic progression to clinical phenotype in classic Fabry disease
Background: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant… Read more