How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails-Reference-Cited by-同舟云学术

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails

Published:2020-04-10 Issue:7 Volume:182 Page:1750-1753
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Viall Sarah¹,Calhoun Amy²,Mew Nicholas Ah¹,Tarini Beth A.³^ORCID

Affiliation:

1. Rare Disease Institute Children's National Hospital Washington District of Columbia USA

2. Department of Pediatrics, Carver College of Medicine University of Iowa Iowa City Iowa USA

3. Center for Translational Research, Children's National Research Institute Children's National Medical Center Washington District of Columbia USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61587

Reference10 articles.

1. American College of Medical Genetics Newborn Screening Expert Group. (2006).Newborn screening: Toward a uniform screening panel and system. Retrieved fromhttps://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritabledisorders/newborn‐uniform‐screening‐panel.pdf

2. Berry G. T.(1993).Classic galactosemia and clinical variant galactosemia. InGeneReviews®. Retrieved fromhttp://www.ncbi.nlm.nih.gov/pubmed/20301691

3. Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling

4. From Public Health Emergency to Public Health Service: The Implications of Evolving Criteria for Newborn Screening Panels

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