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Kishnani, Priya S
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1

Severe CNS involvement in a subset of long-term treated chi..:

Kenney-Jung, Daniel ; Korlimarla, Aditi ; Spiridigliozzi, Gail A....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108119 , 2024
Link: https://doi.org/10.1016/..
 
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2

Underrepresentation of Diverse Ancestries Drives Uncertaint..:

Rosamilia, Michael B. ; Markunas, Alexandra M. ; Kishnani, Priya S..
JACC: Advances.  3 (2024)  2 - p. 100767 , 2024
Link: https://doi.org/10.1016/..
 
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3

New insights into the landscape of ALPL gene variants in pa..:

Kishnani, Priya S. ; Seefried, Lothar ; Dahir, Kathryn M....
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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4

IOPD entering adulthood: Lessons from two decades of ERT ex..:

Stafford, Grace ; Rodriguez-Rassi, Eleanor ; Desai, Ankit K....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108047 , 2024
Link: https://doi.org/10.1016/..
 
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5

Co-existing genetic disorders in Pompe disease: Exome analy..:

Cocanougher, Benjamin ; Francescatto, Ludmila ; Huggins, Erin..
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108214 , 2024
Link: https://doi.org/10.1016/..
 
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6

Changes in forced vital capacity over ≤ 13 years among pati..:

Berger, Kenneth I. ; Chien, Yin-Hsiu ; Dubrovsky, Alberto...
Journal of Neurology.  271 (2024)  8 - p. 5433-5446 , 2024
Link: https://doi.org/10.1007/..
 
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7

Switching treatment to cipaglucosidase alfa plus miglustat ..:

Toscano, Antonio ; Byrne, Barry J. ; Claeys, Kristl G....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108059 , 2024
Link: https://doi.org/10.1016/..
 
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8

Natural history study of hepatic glycogen storage disease t..:

Koch, Rebecca L. ; Kiely, Bridget T. ; Choi, Su Jin...
JCI Insight.  9 (2024)  12 - p. , 2024
Link: https://doi.org/10.1172/..
 
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9

Optimizing clinical outcomes: The journey of twins with CRI..:

Fares, Angie H. ; Desai, Ankit K. ; Case, Laura E....
Molecular Genetics and Metabolism Reports.  41 (2024)  - p. 101141 , 2024
Link: https://doi.org/10.1016/..
 
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10

Clinical insight meets scientific innovation to develop a n..:

Kishnani, Priya S. ; Chien, Yin-Hsiu ; Berger, Kenneth I...
Molecular Genetics and Metabolism.  143 (2024)  1-2 - p. 108559 , 2024
Link: https://doi.org/10.1016/..
 
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11

Validation of the Patient-Reported Outcomes Measurement Inf..:

Kishnani, Priya S. ; Shohet, Simon ; Raza, Syed...
Journal of Patient-Reported Outcomes.  8 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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12

104-week efficacy and safety of cipaglucosidase alfa plus m..:

Schoser, Benedikt ; Kishnani, Priya S. ; Bratkovic, Drago...
Journal of Neurology.  271 (2024)  5 - p. 2810-2823 , 2024
Link: https://doi.org/10.1007/..
 
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13

Effect of avalglucosidase alfa on disease-specific and gene..:

Toscano, Antonio ; Pollissard, Laurence ; Msihid, Jérôme...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108121 , 2024
Link: https://doi.org/10.1016/..
 
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14

Effect size analysis of cipaglucosidase alfa plus miglustat..:

Mozaffar, Tahseen ; Bratkovic, Drago ; Byrne, Barry J....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107971 , 2024
Link: https://doi.org/10.1016/..
 
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15

Whole exome sequencing reveals a dual diagnosis of BCAP31-r..:

Huggins, Erin ; Jackson, David G. ; Young, Sarah P..
Molecular Genetics and Metabolism Reports.  40 (2024)  - p. 101117 , 2024
Link: https://doi.org/10.1016/..
 
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