I agree that this site is using cookies. You can find further informations here.
X
Weinhold, Natalie
52  results:
Search for persons X
?
1

Neurological outcome in long‐chain hydroxy fatty acid oxida..:

Mütze, Ulrike ; Ottenberger, Alina ; Gleich, Florian...
Annals of Clinical and Translational Neurology.  11 (2024)  4 - p. 883-898 , 2024
Link: https://doi.org/10.1002/..
 
?
2

A retrospective study of morbidity and mortality of chronic..:

Mengel, Eugen ; Muschol, Nicole ; Weinhold, Natalie...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
?
3

Next-generation phenotyping integrated in a national framew..:

Schmidt, Axel ; Danyel, Magdalena ; Grundmann, Kathrin...
Nature Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
?
4

Isovaleric aciduria identified by newborn screening: Strate..:

Mütze, Ulrike ; Henze, Lucy ; Schröter, Julian...
Journal of Inherited Metabolic Disease.  46 (2023)  6 - p. 1063-1077 , 2023
Link: https://doi.org/10.1002/..
 
?
5

BCKDK deficiency: a treatable neurodevelopmental disease am..:

Tangeraas, Trine ; Constante, Juliana R ; Backe, Paul Hoff...
Brain.  146 (2023)  7 - p. 3003-3013 , 2023
Link: https://doi.org/10.1093/..
 
?
6

Two years of pegvaliase in Germany: Experiences and best pr..:

Krämer, Johannes ; Baerwald, Christoph ; Heimbold, Christian...
Molecular Genetics and Metabolism.  139 (2023)  1 - p. 107564 , 2023
Link: https://doi.org/10.1016/..
 
?
7

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) defici..:

Grünert, Sarah C. ; Foster, William ; Schumann, Anke...
Biochimie.  183 (2021)  - p. 55-62 , 2021
Link: https://doi.org/10.1016/..
 
?
8

Genotype and residual enzyme activity in medium‐chain acyl‐..:

Tucci, Sara ; Wagner, Christine ; Grünert, Sarah C....
Journal of Inherited Metabolic Disease.  44 (2021)  4 - p. 916-925 , 2021
Link: https://doi.org/10.1002/..
 
?
9

Newborn screening and disease variants predict neurological..:

Mütze, Ulrike ; Henze, Lucy ; Gleich, Florian...
Journal of Inherited Metabolic Disease.  44 (2021)  4 - p. 857-870 , 2021
Link: https://doi.org/10.1002/..
 
?
10

Impact of interventional and non‐interventional variables o..:

Märtner, E. M. Charlotte ; Maier, Esther M. ; Mengler, Katharina...
Journal of Inherited Metabolic Disease.  44 (2020)  3 - p. 629-638 , 2020
Link: https://doi.org/10.1002/..
 
?
11

Newborn screening: A disease‐changing intervention for glut..:

Boy, Nikolas ; Mengler, Katharina ; Thimm, Eva...
Annals of Neurology.  83 (2018)  5 - p. 970-979 , 2018
Link: https://doi.org/10.1002/..
 
?
12

An overview of combined D‐2‐ and L‐2‐hydroxyglutaric acidur..:

Pop, Ana ; Williams, Monique ; Struys, Eduard A....
Journal of Inherited Metabolic Disease.  41 (2017)  2 - p. 169-180 , 2017
Link: https://doi.org/10.1007/..
 
?
13

Acute renal failure unmasking Lesch-Nyhan disease in a pati..:

Thumfart, Julia ; Weschke, Bernhard ; Ringe, Hannelore..
European Journal of Paediatric Neurology.  20 (2016)  4 - p. 649-651 , 2016
Link: https://doi.org/10.1016/..
 
?
14

A movement disorder with dystonia and ataxia caused by a mu..:

Schottmann, Gudrun ; Sarpong, Akosua ; Lorenz, Carmen...
Movement Disorders.  31 (2016)  11 - p. 1733-1739 , 2016
Link: https://doi.org/10.1002/..
 
?
15

Advances and challenges in the treatment of branched‐chain ..:

Knerr, Ina ; Weinhold, Natalie ; Vockley, Jerry.
Journal of Inherited Metabolic Disease.  35 (2011)  1 - p. 29-40 , 2011
Link: https://doi.org/10.1007/..
 
1-15