Lynne A. Ierardi-Curto
Medical Genetics | Pediatrics
3401 Civic Center Blvd
Children's Hospital Of Philadelphia Metabolism Division
Philadelphia, PA 19104
Children's Hospital Of Philadelphia Metabolism Division
Philadelphia, PA 19104
Last Updated: 09/26/2026
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Found 5 publications
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 28, 2019
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Journal: American journal of medical genetics. Part A
Published: November 10, 2017
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.
Journal: JIMD reports
Published: August 03, 2015
Showing 1-5 of 5
Last Updated: 09/26/2026