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X
Aguiar, Mario
924  Ergebnisse:
Personensuche X
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1

Olipudase alfa enzyme replacement therapy reverses intersti..:

Wasserstein, Melissa ; Bonella, Francesco ; Giugliani, Roberto...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108075 , 2024
Link: https://doi.org/10.1016/..
 
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2

Improvements in liver and lipid outcomes continue in childr..:

Lachmann, Robin ; Ganesh, Jaya ; Giugliani, Roberto...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107927 , 2024
Link: https://doi.org/10.1016/..
 
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3

Safety and clinical outcomes in children with acid sphingom..:

Kumar, Monica ; Armstrong, Nicole ; Kim, Yong...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107188 , 2023
Link: https://doi.org/10.1016/..
 
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4

Fungal siderophore metabolism with a focus on Aspergillus f..:

Happacher, Isidor ; Aguiar, Mario ; Yap, Annie...
Essays in Biochemistry.  67 (2023)  5 - p. 829-842 , 2023
Link: https://doi.org/10.1042/..
 
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5

P349: Plasma lyso-sphingomyelin, biomarker for acid sphingo..:

Wasserstein, Melissa ; Giugliani, Roberto ; Jones, Simon...
Genetics in Medicine Open.  1 (2023)  1 - p. 100377 , 2023
Link: https://doi.org/10.1016/..
 
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6

Development of a rare disease algorithm to identify persons..:

Wilson, Amanda ; Chiorean, Alexandra ; Aguiar, Mario...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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7

Plasma lyso-sphingomyelin as a biomarker for acid sphingomy..:

Wasserstein, Melissa P. ; Giugliani, Roberto ; Jones, Simon...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107355 , 2023
Link: https://doi.org/10.1016/..
 
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8

P310: Project Searchlight study methodology: Real-world eva..:

King, Lisa Sniderman ; Aguiar, Mario ; Chiorean, Alexandra...
Genetics in Medicine Open.  1 (2023)  1 - p. 100338 , 2023
Link: https://doi.org/10.1016/..
 
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9

The Siderophore Ferricrocin Mediates Iron Acquisition in As..:

Happacher, Isidor ; Aguiar, Mario ; Alilou, Mostafa...
Microbiology Spectrum.  11 (2023)  3 - p. , 2023
Link: https://doi.org/10.1128/..
 
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10

Uptake of the Siderophore Triacetylfusarinine C, but Not Fu..:

Aguiar, Mario ; Orasch, Thomas ; Shadkchan, Yana...
mBio.  13 (2022)  5 - p. , 2022
Link: https://doi.org/10.1128/..
 
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11

Analysis of survival in patients with acid sphingomyelinase..:

Pullikotil-Jacob, Ruth ; Miles, Gandarvaka ; Patel, Krisha..
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S102 , 2022
Link: https://doi.org/10.1016/..
 
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12

Project Searchlight Gaucher study design: Real-world evalua..:

King, Lisa Sniderman ; Aguiar, Mario ; Chiorean, Alexandra...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S114 , 2022
Link: https://doi.org/10.1016/..
 
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13

The Siderophore Transporters Sit1 and Sit2 Are Essential fo..:

Aguiar, Mario ; Orasch, Thomas ; Misslinger, Matthias...
Journal of Fungi.  7 (2021)  9 - p. 768 , 2021
Link: https://doi.org/10.3390/..
 
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14

Agalsidase beta treatment slows estimated glomerular filtra..:

Ortiz, Alberto ; Kanters, Steve ; Hamed, Alaa...
Clinical Kidney Journal.  14 (2020)  4 - p. 1136-1146 , 2020
Link: https://doi.org/10.1093/..
 
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15

Agalsidase beta delays the progression to kidney disease in..:

DasMahapatra, Pronabesh ; Kanters, Steve ; Poggio, Eugene...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S46 , 2019
Link: https://doi.org/10.1016/..
 
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