Browsing by Subject "Neonatal Screening"
Now showing items 1-12 of 12
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Analysis of educational materials and destruction/opt-out initiatives for storage and use of residual newborn screening samples.
(Genet Test Mol Biomarkers, 2010-10)In recent years, the storage and use of residual newborn screening (NBS) samples has gained attention. To inform ongoing policy discussions, this article provides an update of previous work on new policies, educational materials, ... -
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
(Genetics in medicine : official journal of the American College of Medical Genetics, 2016-12)<h4>Background</h4>Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe ... -
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
(Orphanet journal of rare diseases, 2018-02)BACKGROUND:Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human ... -
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
(Molecular genetics and metabolism, 2021-09)<h4>Objective</h4>To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who ... -
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.
(Molecular genetics and metabolism, 2022-03)<h4>Purpose</h4>Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up.<h4>Methods</h4>Twenty infants ages 6-21 months with LOPD ... -
Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremia.
(PLoS One, 2012)INTRODUCTION: Human beta-defensins are key components of human innate immunity to a variety of pathogens, including Staphylococcus aureus. The aim of the present study was to investigate a potential association between gene ... -
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.
(Clinical chemistry, 2017-08)<h4>Background</h4>Deficiency of the lysosomal enzyme galactosylcerebrosidase (GALC) causes Krabbe disease. Newborn screening for Krabbe disease is ongoing, but improved methods for follow-up analysis of screen-positive ... -
Making Decisions About Krabbe Disease Newborn Screening.
(Pediatrics, 2022-08) -
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
(Journal of inherited metabolic disease, 2021-05)<h4>Background</h4>Among boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). CCALD is typically lethal without hematopoietic stem cell transplant before or soon ... -
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
(Genetics in medicine : official journal of the American College of Medical Genetics, 2016-03)<h4>Purpose</h4>Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is ... -
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
(Genetics in medicine : official journal of the American College of Medical Genetics, 2020-06)<h4>Purpose</h4>Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement of galactocerebrosidase (GALC) activity as the primary test. This revealed that GALC activity has poor specificity for KD. Psychosine ... -
The effect of the WIC program on the health of newborns.
(Health Serv Res, 2010-08)OBJECTIVE: To determine the effect of the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) on birth outcomes. DATA SOURCE: The Child Development Supplement (CDS) of the Panel Study of Income ...
