Last Updated: 09/26/2026
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Found 4 publications
Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.
Journal: Journal of inherited metabolic disease
Published: January 16, 2026
Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders.
Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 15, 2024
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
Journal: JAMA network open
Published: May 08, 2023
An online compendium of treatable genetic disorders.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: November 12, 2020
Showing 1-4 of 4
Last Updated: 09/26/2026