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Kishnani, Priya
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1

Clinical status update for prenatally diagnosed CRIM negati..:

Gupta, Punita ; King, Lorien Tambini ; Kishnani, Priya
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107869 , 2024
Link: https://doi.org/10.1016/..
 
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2

Experience with enzyme replacement therapy in children with..:

Huggins, Erin ; Nading, Erica ; Makhijani, Neelam...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107886 , 2024
Link: https://doi.org/10.1016/..
 
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3

Measurement of glycosaminoglycans in the amniotic fluid of ..:

Young, Sarah ; Lianoglou, Billie R. ; Herzeg, Akos...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108090 , 2024
Link: https://doi.org/10.1016/..
 
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4

P028: Switching treatment to cipaglucosidase alfa+miglustat..:

Kishnani, Priya ; Byrne, Barry ; Claeys, Kristl...
Genetics in Medicine Open.  2 (2024)  - p. 100905 , 2024
Link: https://doi.org/10.1016/..
 
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5

Induced pluripotent stem cell (iPSC) modeling validates red..:

Naito, Chie ; Kosar, Karis ; Kishimoto, Eriko...
Molecular Genetics and Metabolism Reports.  39 (2024)  - p. 101069 , 2024
Link: https://doi.org/10.1016/..
 
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6

Atypical neurological presentation in Gaucher disease type ..:

Wang, John S. ; Huggins, Erin ; Kishnani, Priya
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108072 , 2024
Link: https://doi.org/10.1016/..
 
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7

P029: Early treatment with alglucosidase alfa is associated..:

Kishnani, Priya ; Stockton, David ; Hahn, Andreas...
Genetics in Medicine Open.  2 (2024)  - p. 100906 , 2024
Link: https://doi.org/10.1016/..
 
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8

COMET post hoc analysis: Efficacy of long-term avalglucosid..:

Toscano, Antonio ; Kishnani, Priya ; Dimachkie, Mazen M....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108058 , 2024
Link: https://doi.org/10.1016/..
 
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9

Mini-COMET study: Safety and efficacy data after avalglucos..:

Kronn, David ; Kishnani, Priya ; Davison, James...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107920 , 2024
Link: https://doi.org/10.1016/..
 
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10

Real-world outcomes from a series of patients with late ons..:

Carter, Chris ; Boggs, Tracy ; Case, Laura E..
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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11

New insights into the use of bortezomib-based immunomodulat..:

Shrivastava, Garima ; Desai, Ankit K. ; Grant, Christina L...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108046 , 2024
Link: https://doi.org/10.1016/..
 
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12

Characterizing the clinical course of pediatric-onset neuro..:

Sheikh, Maheen ; Koch, Rebecca ; Longman, Cheryl..
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108182 , 2024
Link: https://doi.org/10.1016/..
 
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13

P374: A novel variant causing BCAP31-related syndrome in a ..:

Huggins, Erin ; Jackson, David ; Kishnani, Priya
Genetics in Medicine Open.  2 (2024)  - p. 101268 , 2024
Link: https://doi.org/10.1016/..
 
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14

Long-term Follow-up of Cipaglucosidase Alfa/Miglustat in Am..:

Mozaffar, Tahseen ; Schoser, Benedikt ; Kishnani, Priya...
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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15

Long-term follow-up of cipaglucosidase alfa/miglustat in am..:

Byrne, Barry J. ; Schoser, Benedikt ; Kishnani, Priya...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107042 , 2023
Link: https://doi.org/10.1016/..
 
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