Search Results - "Prakash, Supraja"

Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis by Prakash, Supraja, Penn, Jeremy D., Jackson, Kelly E., Dean, Lori Williamson

“…Newborn screening (NBS) for Pompe disease (PD) was added to the Recommended Uniform Screening Panel (RUSP) in the United States in 2015 because there was…”
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P312: Value of early evaluations with comprehensive genetic testing in congenital heart disease and childhood onset heart failure: Case report by Prakash, Supraja, Zangwill, Steven, Scott, E'Lashae Richards, Grebe, Theresa

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Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis by Farrar, Jason E., Quarello, Paola, Fisher, Ross, O'Brien, Kelly A., Aspesi, Anna, Parrella, Sara, Henson, Adrianna L., Seidel, Nancy E., Atsidaftos, Eva, Prakash, Supraja, Bari, Shahla, Garelli, Emanuela, Arceci, Robert J., Dianzani, Irma, Ramenghi, Ugo, Vlachos, Adrianna, Lipton, Jeffrey M., Bodine, David M., Ellis, Steven R.

“…Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow…”
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Genome-wide mosaic maternal uniparental disomy in a female with multiple imprinting disorders by Prakash, Supraja, Keller-Ramey, Jennifer, Schnur, Rhonda, Grebe, Theresa

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eP270 - Genome-wide mosaic maternal uniparental disomy in a female with multiple imprinting disorders by Prakash, Supraja, Keller-Ramey, Jennifer, Schnur, Rhonda, Grebe, Theresa

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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder by Szot, Justin O, Cuny, Hartmut, Martin, Ella Mma, Sheng, Delicia Z, Iyer, Kavitha, Portelli, Stephanie, Nguyen, Vivien, Gereis, Jessica M, Alankarage, Dimuthu, Chitayat, David, Chong, Karen, Wentzensen, Ingrid M, Vincent-Delormé, Catherine, Lermine, Alban, Burkitt-Wright, Emma, Ji, Weizhen, Jeffries, Lauren, Pais, Lynn S, Tan, Tiong Y, Pitt, James, Wise, Cheryl A, Wright, Helen, Andrews, Israel D, Pruniski, Brianna, Grebe, Theresa A, Corsten-Janssen, Nicole, Bouman, Katelijne, Poulton, Cathryn, Prakash, Supraja, Keren, Boris, Brown, Natasha J, Hunter, Matthew F, Heath, Oliver, Lakhani, Saquib A, McDermott, John H, Ascher, David B, Chapman, Gavin, Bozon, Kayleigh, Dunwoodie, Sally L

“…Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date, biallelic loss-of-function variants in 3 genes encoding nonredundant…”
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Exploiting pre‐rRNA processing in D iamond B lackfan anemia gene discovery and diagnosis by Farrar, Jason E., Quarello, Paola, Fisher, Ross, O'Brien, Kelly A., Aspesi, Anna, Parrella, Sara, Henson, Adrianna L., Seidel, Nancy E., Atsidaftos, Eva, Prakash, Supraja, Bari, Shahla, Garelli, Emanuela, Arceci, Robert J., Dianzani, Irma, Ramenghi, Ugo, Vlachos, Adrianna, Lipton, Jeffrey M., Bodine, David M., Ellis, Steven R.

“…Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow…”
Get full text