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Zielonka, Matthias
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1

Severity-adjusted evaluation of liver transplantation on he..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Genetics in Medicine.  26 (2024)  4 - p. 101039 , 2024
Link: https://doi.org/10.1016/..
 
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2

ASS1 deficiency is associated with impaired neuronal differ..:

Seidl, Marie J. ; Scharre, Svenja ; Posset, Roland...
Molecular Genetics and Metabolism.  141 (2024)  1 - p. 108097 , 2024
Link: https://doi.org/10.1016/..
 
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3

Impact of supplementation with L-citrulline/arginine after ..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108112 , 2024
Link: https://doi.org/10.1016/..
 
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4

The challenge of understanding and predicting phenotypic di..:

Posset, Roland ; Zielonka, Matthias ; Gleich, Florian...
Journal of Inherited Metabolic Disease.  46 (2023)  6 - p. 1007-1016 , 2023
Link: https://doi.org/10.1002/..
 
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5

Phenotypic prediction in glutaric aciduria type 1 combining..:

Yuan, Yuheng ; Dimitrov, Bianca ; Boy, Nikolas...
Journal of Inherited Metabolic Disease.  46 (2023)  3 - p. 391-405 , 2023
Link: https://doi.org/10.1002/..
 
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6

Postauthorization safety study of betaine anhydrous:

Mütze, Ulrike ; Gleich, Florian ; Garbade, Sven F....
Journal of Inherited Metabolic Disease.  45 (2022)  4 - p. 719-733 , 2022
Link: https://doi.org/10.1002/..
 
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7

Predicting the disease severity in male individuals with or..:

Scharre, Svenja ; Posset, Roland ; Garbade, Sven F....
Annals of Clinical and Translational Neurology.  9 (2022)  11 - p. 1715-1726 , 2022
Link: https://doi.org/10.1002/..
 
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8

Missense variant c.1460 T > C (p.L487P) enhances protein de..:

Himmelreich, Nastassja ; Dimitrov, Bianca ; Zielonka, Matthias...
Molecular Genetics and Metabolism.  136 (2022)  4 - p. 274-281 , 2022
Link: https://doi.org/10.1016/..
 
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9

Unmet Needs of Parents of Children with Urea Cycle Disorder:

Scharping, Mara ; Brennenstuhl, Heiko ; Garbade, Sven F....
Children.  9 (2022)  5 - p. 712 , 2022
Link: https://doi.org/10.3390/..
 
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10

Chronic hyperammonemia causes a hypoglutamatergic and hyper..:

Probst, Joris ; Kölker, Stefan ; Okun, Jürgen G....
Experimental Neurology.  331 (2020)  - p. 113330 , 2020
Link: https://doi.org/10.1016/..
 
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11

From genotype to phenotype: Early prediction of disease sev..:

Zielonka, Matthias ; Garbade, Sven F. ; Gleich, Florian...
Human Mutation.  41 (2020)  5 - p. 946-960 , 2020
Link: https://doi.org/10.1002/..
 
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12

FDA orphan drug designations for lysosomal storage disorder..:

Garbade, Sven F. ; Zielonka, Matthias ; Mechler, Konstantin...
PLOS ONE.  15 (2020)  4 - p. e0230898 , 2020
Link: https://doi.org/10.1371/..
 
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13

Severity-adjusted evaluation of newborn screening on the me..:

Posset, Roland ; Kölker, Stefan ; Gleich, Florian...
Molecular Genetics and Metabolism.  131 (2020)  4 - p. 390-397 , 2020
Link: https://doi.org/10.1016/..
 
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14

Long-term effects of medical management on growth and weigh..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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15

Fatal outcome after heart surgery in PMM2-CDG due to a rare..:

Görlacher, Marlen ; Panagiotou, Eleftheria ; Himmelreich, Nastassja...
Molecular Genetics and Metabolism Reports.  25 (2020)  - p. 100673 , 2020
Link: https://doi.org/10.1016/..
 
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