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P015: Clinical characterization of classical homocystinuria due to cystathionine-beta synthase deficiency: Results from the ACAPPELLA study by Can Ficicioglu, Melissa Lah, Harvey Levy, Hong Li, Clint Lovell, Cheryl Wong Po Foo, Ellen Crushell, Reena Sharma, Janet Thomas
Published 2025-01-01Get full text
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Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen by Hayley A. Ron, Owen Kane, Rose Guo, Caitlin Menello, Nicole Engelhardt, Shaney Pressley, Brenda DiBoscio, Madeline Steffensen, Sanmati Cuddapah, Kim Ng, Can Ficicioglu, Rebecca C. Ahrens-Nicklas
Published 2025-02-01Get full text
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Newborn Screening for Gaucher Disease: The New Jersey Experience by Caitlin Menello, Shaney Pressley, Madeline Steffensen, Sarah Schmidt, Helio Pedro, Reena Jethva, Karen Valdez-Gonzalez, Darius J. Adams, Punita Gupta, Lorien Tambini King, Milen Velinov, Sharon Anderson, Peyman Bizargity, Beth Pletcher, Allysa Tuite, Christina Kresge, Debra Lynn Day-Salvatore, Ryan Kuehl, Can Ficicioglu
Published 2025-05-01Get full text
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