Amy White

6PUBLICATIONS
49CO-AUTHORS
Developmental genetics (incl. sex determination)Infant and child healthCancer geneticsClinical nutritionGlycoconjugates
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Publications (6)

|Aug 26, 2026
Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.

|Apr 27, 2026
Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.

|Apr 24, 2026
COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

|Nov 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.

Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti

|Jul 05, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.

Shino Shimada, Bobby G Ng, Amy L White

|Oct 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Dawn S Peck, Jean M Lacey, Amy L White

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Frequent Collaborators

4 joint publications

Dietrich Matern

3 joint publications

Joseph Orsini

2 joint publications

Devin Oglesbee

2 joint publications

Silvia Tortorelli