Ngā hua rapu - Cuddapah, Sanmati

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficie... mā Dowsett, Leah, Lulis, Lauren, Ficicioglu, Can, Cuddapah, Sanmati

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Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience mā Ahrens-Nicklas, Rebecca C., Whitaker, Ashley M., Kaplan, Paige, Cuddapah, Sanmati, Burfield, Jessica, Blair, Jennifer, Brochi, Ligia, Yudkoff, Marc, Ficicioglu, Can

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Newborn Screening for Pompe Disease: Pennsylvania Experience mā Ficicioglu, Can, Ahrens-Nicklas, Rebecca C., Barch, Joshua, Cuddapah, Sanmati R., DiBoscio, Brenda S., DiPerna, James C., Gordon, Patricia L., Henderson, Nadene, Menello, Caitlin, Luongo, Nicole, Ortiz, Damara, Xiao, Rui

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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 mā Strong, Alanna, O'Grady, Gina, Shih, Evelyn, Bishop, Jonathan R., Loomes, Kathleen, Diamond, Tamir, Hartung, Erum A., Wong, William, Cuddapah, Sanmati, Cahill, Anne Marie, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Li, Dong, Hakonarson, Hakon

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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia mā Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Vargas Parra, Karen, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M., Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

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