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Sansen, Stefaan
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1

Patient preferences in genetic newborn screening for rare d..:

MARTIN, Sylvia ; Angolini, Emanuele ; Audi, Jennifer...
BMJ Open.  14 (2024)  4 - p. e081835 , 2024
Link: https://doi.org/10.1136/..
 
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2

Machine learned decision tree for diagnosis of ASMD among p..:

Noth, Imre ; Bonella, Francesco ; Wuyts, Wim...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108288 , 2024
Link: https://doi.org/10.1016/..
 
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3

Tailored diagnostic decision tree resulting from machine le..:

Scarpa, Maurizio ; Cappellini, Maria Domenica ; Giugliani, Roberto...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108030 , 2024
Link: https://doi.org/10.1016/..
 
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4

Importance to include differential diagnostics for acid sph..:

Oliva, Petra ; Schwarz, Markus ; Mechtler, Thomas P....
Molecular Genetics and Metabolism.  139 (2023)  1 - p. 107563 , 2023
Link: https://doi.org/10.1016/..
 
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5

Rare diseases' genetic newborn screening as the gateway to ..:

Ferlini, Alessandra ; Gross, Edith Sky ; Garnier, Nicolas...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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6

The ratio of Niemann-Pick disease type A/B to cases of Gauc..:

Oliva, Petra ; Mechtler, Thomas P. ; Schwarz, Markus...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107248 , 2023
Link: https://doi.org/10.1016/..
 
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7

Results from two year pilot study for identifying inherited..:

Streubel, Berthold ; Mechtler, Thomas P. ; Sansen, Stefaan.
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107329 , 2023
Link: https://doi.org/10.1016/..
 
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8

Genetic newborn screening and digital technologies: A proje..:

Garnier, Nicolas ; Berghout, Joanne ; Zygmunt, Aldona...
PLOS ONE.  18 (2023)  11 - p. e0293503 , 2023
Link: https://doi.org/10.1371/..
 
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9

Diagnostic approach for Fabry disease:

Oliva, Petra ; Mechtler, Thomas P. ; Sansen, Stefaan..
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107247 , 2023
Link: https://doi.org/10.1016/..
 
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10

Rapid identification of IOPD and early-onset Pompe disease ..:

Balendran, Sukirhini ; Oliva, Petra ; Sansen, Stefaan...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S21 , 2022
Link: https://doi.org/10.1016/..
 
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11

High-risk population screening by differential diagnosis fo..:

Schwarz, Markus ; Oliva, Petra ; Mechtler, Thomas...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S110 , 2022
Link: https://doi.org/10.1016/..
 
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12

Diagnostic strategy for suspected cases of Fabry disease:

Oliva, Petra ; Balendran, Sukirhini ; Sansen, Stefaan...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S91 , 2022
Link: https://doi.org/10.1016/..
 
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13

Differential diagnosis of Niemann-Pick disease type A/B in ..:

Oliva, Petra ; Mechtler, Thomas ; Schwarz, Markus...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S91 , 2022
Link: https://doi.org/10.1016/..
 
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14

The incidence of acid sphingomyelinase deficiency (ASMD) in..:

Oliva, Petra ; Schwarz, Markus ; Wiesinger, Thomas...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S79 , 2021
Link: https://doi.org/10.1016/..
 
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15

Diagnostic strategy for females suspected of Fabry disease:

Balendran, Sukirthini ; Oliva, Petra ; Sansen, Stefaan...
Clinical Genetics.  97 (2020)  4 - p. 655-660 , 2020
Link: https://doi.org/10.1111/..
 
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