Results 201 to 210 of about 1,245,890 (249)

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders. [PDF]

open access: yesMetabolomics
Veldman A   +9 more
europepmc   +1 more source

Transient B cell lymphopenia revealed by KRECs newborn screening: Post-screening referral strategies, clinical course, and follow-up. [PDF]

open access: yesPediatr Allergy Immunol
Valentina G   +15 more
europepmc   +1 more source

Implementation of a Prospective Birth Cohort for Newborn Screening and Early Linkage to Comprehensive Sickle Cell Disease Care in a Low-Resource Setting. [PDF]

open access: yesInt J Neonatal Screen
Ibrahim UA   +17 more
europepmc   +1 more source

What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.

open access: yesPublic Health Genomics
Martin S   +12 more
europepmc   +1 more source

Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm: Two Decades of Experience. [PDF]

open access: yesPediatr Pulmonol
Langfelder-Schwind E   +16 more
europepmc   +1 more source

Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.

open access: yesPublic Health Genomics
Furuta Y   +12 more
europepmc   +1 more source

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program

open access: yesMetabolites
Background/Objectives: Dutch newborn screening is an important public health program designed to detect conditions early in life, enabling timely interventions that can prevent mortality, morbidity, and long-term disabilities. However, the program also faces certain challenges.
Annet Bosch, Rebecca Heiner-Fokkema
exaly   +6 more sources

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

open access: yesInternational Journal of Neonatal Screening, 2023
Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early treatment through NBS.
Inken Brockow   +2 more
exaly   +4 more sources

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