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Mechtler, Thomas P.
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1

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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2

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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3

Combined assay methodology for the analysis of enzyme activ..:

Hold, Stephan T. ; Mechtler, Thomas P. ; Schwarz, Markus.
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107149 , 2023
Link: https://doi.org/10.1016/..
 
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4

Results of a prospective high risk population study for the..:

Schwarz, Markus ; Mechtler, Thomas P. ; Liebmann-Reindl, Sandra...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107312 , 2023
Link: https://doi.org/10.1016/..
 
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5

Newborn screening for metachromatic leukodystrophy (MLD): A..:

Gelb, Michael H. ; Wasserstein, Melissa ; Orsini, Joseph J....
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107111 , 2023
Link: https://doi.org/10.1016/..
 
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6

A MLD newborn screening pilot-study for metachromatic leuko..:

Oliva, Petra ; Mechtler, Thomas P. ; Schwarz, Markus...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107249 , 2023
Link: https://doi.org/10.1016/..
 
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7

Strategy for diagnosis of neuronal ceroid lipofuscinoses:

Oliva, Petra ; Mechtler, Thomas P. ; Streubel, Berthold.
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107250 , 2023
Link: https://doi.org/10.1016/..
 
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8

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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9

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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10

High-risk population screening for the mucopolysaccharidose..:

Schwarz, Markus ; Mechtler, Thomas P. ; Liebmann-Reindl, Sandra...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107313 , 2023
Link: https://doi.org/10.1016/..
 
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11

Newborn screening for metachromatic leukodystrophy in North..:

Wiesinger, Thomas ; Schwarz, Markus ; Oliva, Petra...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S112 , 2021
Link: https://doi.org/10.1016/..
 
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12

Differential diagnosis of Niemann-Pick disease types A and ..:

Oliva, Petra ; Mechtler, Thomas P. ; Schwarz, Markus...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S121 , 2020
Link: https://doi.org/10.1016/..
 
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13

Challenges for newborn screening and rare disease diagnosti..:

Kasper, David C. ; Lukacs, Zoltan ; Streubel, Berthold..
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S84-S85 , 2020
Link: https://doi.org/10.1016/..
 
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14

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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15

Investigating the suitability of high-resolution mass spect..:

Mechtler, Thomas P. ; Wiesinger, Thomas ; Schwarz, Markus...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S108-S109 , 2020
Link: https://doi.org/10.1016/..
 
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