Lynne A. Ierardi-Curto

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

Solmi Cheon, Kiran Kaur, Nadine Nijem et al. · Proceedings of the National Academy of Sciences · 2019 · 40 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Hepatocellular carcinoma despite long‐term survival in chronic tyrosinaemia I

S. Z. Kim, Kenneth G. Kupke, Lynne A. Ierardi-Curto et al. · Journal of Inherited Metabolic Disease · 2000 · 39 citations

Medicine, Cancer Biology, Oncology +14

Two Primary Osteosarcomas in a Patient With Rothmund-Thomson Syndrome

Kevin K. Anbari, Lynne A. Ierardi-Curto, Jeff S. Silber et al. · Clinical Orthopaedics and Related Research · 2000 · 32 citations

Medicine, Oncology, Pathology +16

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

Alyssa Ritter, Carey McDougall, Cara Skraban et al. · American Journal of Medical Genetics Part A · 2018 · 31 citations

Medicine, Child Health, Pediatrics +17

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

Andrew C. Edmondson, J Salant, Lynne A. Ierardi-Curto · JIMD Reports · 2016 · 23 citations · Full text

Life Sciences, Genetics, Pediatrics +17