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Giugliani, Robert
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1

Long‐term survival outcomes of patients with Niemann‐Pick d..:

Patterson, Marc C. ; Garver, William S. ; Giugliani, Robert...
Journal of Inherited Metabolic Disease.  43 (2020)  5 - p. 1060-1069 , 2020
Link: https://doi.org/10.1002/..
 
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2

Safety of switching to Migalastat from enzyme replacement t..:

Hughes, Derralynn A. ; Nicholls, Kathleen ; Sunder‐Plassmann, Gere...
American Journal of Medical Genetics Part A.  179 (2019)  6 - p. 1069-1073 , 2019
Link: https://doi.org/10.1002/..
 
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3

Long‐term survival outcomes of patients with Niemann‐Pick d..:

Patterson, Marc C ; Garver, William S ; Giugliani, Robert...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540716/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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4

Safety of switching to Migalastat from enzyme replacement t..:

Hughes, Derralynn A ; Nicholls, Kathleen ; Sunder‐Plassmann, Gere...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593787/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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5

Consensus recommendations for the treatment and management ..:

Bichet, Daniel G. ; Hopkin, Robert J. ; Aguiar, Patrício...
Frontiers in Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

Clinical characteristics of female patients enrolled in the..:

Jovanovic, Ana ; Nordbeck, Peter ; Pisani, Antonio...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107173 , 2023
Link: https://doi.org/10.1016/..
 
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7

Long-term multisystemic efficacy with migalastat in ERT-nai..:

Hopkin, Robert J. ; Bichet, Daniel G. ; Sunder-Plassmann, Gere...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S56 , 2022
Link: https://doi.org/10.1016/..
 
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8

Prenatal diagnosis of mucopolysaccharidosis type VI by anal..:

Kubaski, Francyne ; Menezes, Ana Cecília ; Herbst, Zackary M....
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S69 , 2022
Link: https://doi.org/10.1016/..
 
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9

Long-term multisystemic efficacy of migalastat on Fabry-ass..:

Hughes, Derralynn A ; Bichet, Daniel G ; Giugliani, Roberto...
Journal of Medical Genetics.  60 (2022)  7 - p. 722-731 , 2022
Link: https://doi.org/10.1136/..
 
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10

Baseline demographics and clinical characteristics of patie..:

Nordbeck, Peter ; Jovanovic, Ana ; Pisani, Antonio...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S89-S90 , 2022
Link: https://doi.org/10.1016/..
 
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11

Report of the first Brazilian patients with MPS IIID, with ..:

Kubaski, Francyne ; Miguel, Diego ; Grangeiro, Carlos H.P....
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S59 , 2021
Link: https://doi.org/10.1016/..
 
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12

Disease characteristics, early effectiveness, and safety of..:

Lau, Heather A. ; Lopez, Antonio Gonzalez-Meneses ; Scarpa, Maurizio...
Molecular Genetics and Metabolism.  132 (2021)  - p. S77 , 2021
Link: https://doi.org/10.1016/..
 
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13

Disease characteristics, early effectiveness, and safety of..:

Lau, Heather ; Gonzalez-Meneses, Antonio ; Scarpa, Maurizio...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S63 , 2021
Link: https://doi.org/10.1016/..
 
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14

Quantification of glycosaminoglycan species in patients wit..:

Kubaski, Francyne ; Pereira, Danilo ; Silva, Thiago O....
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S93 , 2020
Link: https://doi.org/10.1016/..
 
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15

Baseline patient characteristics of followME, a new, patien..:

Sunder-Plassmann, Gere ; Bichet, Daniel G. ; Davidonis, Martynas...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S150 , 2020
Link: https://doi.org/10.1016/..
 
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