E-LIB Suche - Ergebnisse für: Dercksen, Marli

1

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

2

Non-Enzymatic Formation of N-acetylated Amino Acid Conjugat..:

Jacobs, Jano ; van Sittert, Cornelia Gertina Catharina Elizabeth ; Mienie, Lodewyk Japie...
Applied Sciences. 13 (2023) 18 - p. 10002 , 2023

Link: https://doi.org/10.3390/..

3

The glycine N-acyltransferases, GLYAT and GLYATL1, contribu..:

Kühn, Stefan ; Williams, Monray E. ; Dercksen, Marli..
Computational and Structural Biotechnology Journal. 21 (2023) - p. 1236-1248 , 2023

Link: https://doi.org/10.1016/..

4

Disorders of flavin adenine dinucleotide metabolism: MADD a..:

Mereis, Michelle ; Wanders, Ronald J.A. ; Schoonen, Maryke...
The International Journal of Biochemistry & Cell Biology. 132 (2021) - p. 105899 , 2021

Link: https://doi.org/10.1016/..

5

Novel Mutation in the IDS Gene in Hunter Syndrome Associate..:

Satekge, Tumelo M ; Honey, Engela M ; Pitso, Boitumelo..
Clinical Chemistry. 67 (2021) 3 - p. 564-566 , 2021

Link: https://doi.org/10.1093/..

6

A novel mutation in ETFDH manifesting as severe neonatal-on..:

van der Westhuizen, Francois H. ; Smuts, Izelle ; Honey, Engela...
Journal of the Neurological Sciences. 384 (2018) - p. 121-125 , 2018

Link: https://doi.org/10.1016/..

7

A novel UPLC-MS/MS based method to determine the activity o..:

Dercksen, Marli ; Duran, Marinus ; IJlst, Lodewijk...
Molecular Genetics and Metabolism. 119 (2016) 4 - p. 307-310 , 2016

Link: https://doi.org/10.1016/..

8

Erratum to: ALG6‐CDG: a recognizable phenotype with epileps..:

Morava, Eva ; Tiemes, Vera ; Thiel, Christian...
Journal of Inherited Metabolic Disease. 39 (2016) 5 - p. 759-759 , 2016

Link: https://doi.org/10.1007/..

9

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal ..:

Morava, Eva ; Tiemes, Vera ; Thiel, Christian...
Journal of Inherited Metabolic Disease. 39 (2016) 5 - p. 713-723 , 2016

Link: https://doi.org/10.1007/..

10

Organic acid profile of isovaleric acidemia: a comprehensiv..:

Dercksen, Marli ; Koekemoer, Gerhard ; Duran, Marinus...
Metabolomics. 9 (2013) 4 - p. 765-777 , 2013

Link: https://doi.org/10.1007/..

11

Concurrent class analysis identifies discriminatory variabl..:

Koekemoer, Gerhard ; Dercksen, Marli ; Allison, James..
Metabolomics. 8 (2011) S1 - p. 17-28 , 2011

Link: https://doi.org/10.1007/..

12

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Bisschoff, M., Smuts, I., Dercksen, M. et al. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 19, 15 (2024). https://doi.org/10.1186/s13023-023-03014-8.. , 2024

Link: http://hdl.handle.net/22..

13

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789041/. , 2024

Link: http://www.ncbi.nlm.nih...

14

The glycine N-acyltransferases, GLYAT and GLYATL1, contribu..:

Kühn, Stefan ; Williams, Monray E ; Dercksen, Marli..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932296/. , 2023

Link: http://www.ncbi.nlm.nih...

15

The glycine N-acyltransferases, GLYAT and GLYATL1, contribu..:

Kühn, Stefan ; Williams, Monray E ; Dercksen, Marli..
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.csbj.2023.01.041. , 2023

Link: https://pub.h-brs.de/fro..