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Ortiz, Damara
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1

More frequent dosing with agalsidase beta: An update to our..:

Henderson, Nadene D. ; Lahr, Ashley ; Forsyth, RaeLynn..
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107878 , 2024
Link: https://doi.org/10.1016/..
 
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2

Characteristics and management of US pediatric patients wit..:

Goker-Alpan, Ozlem ; Burrow, Andrew ; Enns, Gregory M....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107854 , 2024
Link: https://doi.org/10.1016/..
 
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3

Genetic counselors' awareness and attitudes regarding gene ..:

Walsh, Chelsey ; Durst, Andrea L. ; Ortiz, Damara..
Journal of Genetic Counseling.  , 2024
Link: https://doi.org/10.1002/..
 
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4

A review of provider experiences with newborn screening for..:

Williams, Kaylee ; Menello, Caitlin ; Henderson, Nadene D....
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107360 , 2023
Link: https://doi.org/10.1016/..
 
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5

P005: Head-to-head trial of pegunigalsidase alfa vs agalsid..:

Bernat, John ; Wallace, Eric ; Goker-Alpan, Ozlem...
Genetics in Medicine Open.  1 (2023)  1 - p. 100015 , 2023
Link: https://doi.org/10.1016/..
 
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6

Cardiac effects of 4D-310 in adults with Fabry disease in a..:

Schiffmann, Raphael ; Goker-Alpan, Ozlem ; Vockley, Jerry...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107306 , 2023
Link: https://doi.org/10.1016/..
 
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7

P424: An unusual recombinant chromosome 6 derived from a pa..:

Babcock, Melanie ; Lancaster, Emily ; Ortiz, Damara...
Genetics in Medicine Open.  1 (2023)  1 - p. 100471 , 2023
Link: https://doi.org/10.1016/..
 
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8

Head-to-head trial of pegunigalsidase alfa versus agalsidas..:

Wallace, Eric L ; Goker-Alpan, Ozlem ; Wilcox, William R...
Journal of Medical Genetics.  61 (2023)  6 - p. 520-530 , 2023
Link: https://doi.org/10.1136/..
 
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9

Dual genetic diagnoses in a lysosomal disorders' patient po..:

Williams, Kaylee ; Henderson, Nadene ; Barch, Joshua.
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S128 , 2022
Link: https://doi.org/10.1016/..
 
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10

Transition to eliglustat in an individual with Gaucher dise..:

Ortiz, Damara ; Barch, Joshua ; Segady, Kayla.
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S80 , 2021
Link: https://doi.org/10.1016/..
 
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11

Hydroxychloroquine use and toxicity in patients with Fabry ..:

Kapoor, Sanjana ; Ramani, Ravi ; Ortiz, Damara.
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S54 , 2021
Link: https://doi.org/10.1016/..
 
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12

Analysis of parent perception of newborn screening for lyso..:

Lahr, Ashley ; Henderson, Nadene ; Ortiz, Damara.
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S61-S62 , 2021
Link: https://doi.org/10.1016/..
 
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13

Newborn Screening for Pompe Disease: Pennsylvania Experienc:

Ficicioglu, Can ; Ahrens-Nicklas, Rebecca C. ; Barch, Joshua...
International Journal of Neonatal Screening.  6 (2020)  4 - p. 89 , 2020
Link: https://doi.org/10.3390/..
 
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14

Copy number alterations involving 59 ACMG‐recommended secon..:

Yatsenko, Svetlana A. ; Aarabi, Mahmoud ; Hu, Jie...
Clinical Genetics.  98 (2020)  6 - p. 577-588 , 2020
Link: https://doi.org/10.1111/..
 
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15

Long-term efficacy and safety of migalastat treatment in Fa..:

Feldt-Rasmussen, Ulla ; Hughes, Derralynn ; Sunder-Plassmann, Gere...
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 219-228 , 2020
Link: https://doi.org/10.1016/..
 
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