Edwin C. Ferren

Edwin C. Ferren

Pediatrics | Medical Genetics
1001 Blythe Blvd.
Suite 200
Charlotte, NC 28203

Last Updated: 09/26/2026

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Found 7 publications

Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina.

Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina.

Journal: Molecular genetics and metabolism
Published: April 06, 2026

Variant-specific RNA testing resolves variants of uncertain significance in exome testing.

Variant-specific RNA testing resolves variants of uncertain significance in exome testing.

Journal: BMC genomics
Published: March 30, 2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

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

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.

Journal: Orphanet journal of rare diseases
Published: December 23, 2024

Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury.

Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury.

Journal: ACG case reports journal
Published: October 08, 2023

A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.

A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.

Journal: Journal of the Endocrine Society
Published: July 31, 2020

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Journal: JIMD reports
Published: May 05, 2020
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Last Updated: 09/26/2026