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Publications by authors named "Edwin Ferren"

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Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
Edwin Ferren, Paul R Hillman, Amy Kritzer, Joseph Ray, Alvaro Serrano

Orphanet J Rare Dis· July 2025


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Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury.
Saigopala Reddy, Nathan Fleishman, Katherine Dempsey, Edwin Ferren, Michal Kamionek

ACG Case Rep J· April 2024


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A Novel Homozygous Missense Mutation in the Gene: Expanding the Phenotype of Multisystem Disease.
Rawah K H M Zeiad, Edwin C Ferren, Denise D Young, Shanelle J De Lancy, Demitrios Dedousis

J Endocr Soc· February 2021


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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.
Jirair K Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren

JIMD Rep· November 2020


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