A Qualitative Study of Factors Influencing Decision-Making after Prenatal Diagnosis of down Syndrome von Reed, Amy R., Berrier, Kathryn L.

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Clinical laboratory experience of blood CRIM testing in infantile Pompe disease von Bali, Deeksha S., Goldstein, Jennifer L., Rehder, Catherine, Kazi, Zoheb B., Berrier, Kathryn L., Dai, Jian, Kishnani, Priya S.

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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy von Berrier, Kathryn L., Kazi, Zoheb B., Prater, Sean N., Bali, Deeksha S., Goldstein, Jennifer, Stefanescu, Mihaela C., Rehder, Catherine W., Botha, Eleanor G., Ellaway, Carolyn, Bhattacharya, Kaustuv, Tylki-Szymanska, Anna, Karabul, Nesrin, Rosenburg, Amy S., Kishnani, Priya S.

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Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G “late-onset” GAA variant von Rairikar, Mugdha V., Case, Laura E., Bailey, Lauren A., Kazi, Zoheb B., Desai, Ankit K., Berrier, Kathryn L., Coats, Julie, Gandy, Rachel, Quinones, Rebecca, Kishnani, Priya S.

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Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease von Kazi, Zoheb B, Desai, Ankit K, Berrier, Kathryn L, Troxler, R Bradley, Wang, Raymond Y, Abdul-Rahman, Omar A, Tanpaiboon, Pranoot, Mendelsohn, Nancy J, Herskovitz, Eli, Kronn, David, Inbar-Feigenberg, Michal, Ward-Melver, Catherine, Polan, Michelle, Gupta, Punita, Rosenberg, Amy S, Kishnani, Priya S

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Detecting celiac disease in patients with Down syndrome von Sharr, Christianne, Lavigne, Jenifer, Elsharkawi, Ibrahim M. A., Ozonoff, Al, Baumer, Nicole, Brasington, Campbell, Cannon, Sheila, Crissman, Blythe, Davidson, Emily, Florez, Jose C., Kishnani, Priya, Lombardo, Angela, Lyerly, Jordan, McDonough, Mary Ellen, Schwartz, Alison, Berrier, Kathryn L., Sparks, Susan, Stock-Guild, Kara, Toler, Tomi L., Vellody, Kishore, Voelz, Lauren, Skotko, Brian G.

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National down syndrome patient database: Insights from the development of a multi-center registry study von Lavigne, Jenifer, Sharr, Christianne, Ozonoff, Al, Prock, Lisa Albers, Baumer, Nicole, Brasington, Campbell, Cannon, Sheila, Crissman, Blythe, Davidson, Emily, Florez, Jose C., Kishnani, Priya, Lombardo, Angela, Lyerly, Jordan, McCannon, Jessica B., McDonough, Mary Ellen, Schwartz, Alison, Berrier, Kathryn L., Sparks, Susan, Stock-Guild, Kara, Toler, Tomi L., Vellody, Kishore, Voelz, Lauren, Skotko, Brian G.

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Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening von Kishnani, Priya S., Kazi, Zoheb B., Berrier, Kathryn L., Dearmey, Stephanie M., Bali, Deeksha S., Rosenberg, Amy S.

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Long-term immune tolerance of infantile Pompe disease with entrenched immune responses to ERT using a bortezomib-based regimen von Berrier, Kathryn L., Kazi, Zoheb B., Prater, Sean N., Kishnani, Priya S.

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CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy von Berrier, Kathryn L, Kazi, Zoheb B, Prater, Sean N, Bali, Deeksha S, Goldstein, Jennifer, Stefanescu, Mihaela C, Rehder, Catherine W, Botha, Eleanor G, Ellaway, Carolyn, Bhattacharya, Kaustuv, Tylki-Szymanska, Anna, Karabul, Nesrin, Rosenberg, Amy S, Kishnani, Priya S

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Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study von Lavigne, Jenifer, Sharr, Christianne, Elsharkawi, Ibrahim, Ozonoff, Al, Baumer, Nicole, Brasington, Campbell, Cannon, Sheila, Crissman, Blythe, Davidson, Emily, Florez, Jose C., Kishnani, Priya, Lombardo, Angela, Lyerly, Jordan, McDonough, Mary Ellen, Schwartz, Alison, Berrier, Kathryn, Sparks, Susan, Stock‐Guild, Kara, Toler, Tomi L., Vellody, Kishore, Voelz, Lauren, Skotko, Brian G.

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