E-LIB Suche - Ergebnisse für: Bouva, M. J

1

Maleic acid is a biomarker for maleylacetoacetate isomerase..:

van Vliet, K. ; Dijkstra, A. M. ; Bouva, M. J....
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1104-1113 , 2023

Link: https://doi.org/10.1002/..

2

P013 Evaluation of improvements of the cystic fibrosis newb..:

Bouva, M. ; Heijnen, M.-L. ; Jakobs, B....
Journal of Cystic Fibrosis. 20 (2021) - p. S42 , 2021

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

3

WS10.4 Performance of a four-step newborn screening strateg..:

Dankert-Roelse, J. ; Bouva, M. ; de Winter-de Groot, K....
Journal of Cystic Fibrosis. 16 (2017) - p. S18 , 2017

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

4

ePS01.4 Improvement of the validity of the Dutch combined I..:

Bouva, M.J. ; Dankert-Roelse, J.E. ; Verkerk, P.H....
Journal of Cystic Fibrosis. 15 (2016) - p. S37 , 2016

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

5

Maleic acid is a biomarker for maleylacetoacetate isomerase..:

van Vliet, K ; Dijkstra, A. M ; Bouva, M. J...
https://research.rug.nl/en/publications/006934b2-e040-419e-b7f5-8add98a90d5c. , 2023

Link: https://hdl.handle.net/1..

6

Newborn screening for sickle cell disease in Europe:

Daniel, Yvonne ; Elion, Jacques ; Allaf, Bichr...
uri/info:doi/10.3390/ijns5010015. , 2019

Link: http://hdl.handle.net/20..

7

Newborn screening for Cerebrotendinous Xanthomatosis: A ret..:

Vaz, Frédéric M. ; Jamal, Youssra ; Barto, Rob...
Clinica Chimica Acta. 539 (2023) - p. 170-174 , 2023

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

8

Optimizing the Dutch newborn screening for congenital hypot..:

Jansen, Heleen I ; van Haeringen, Marije ; Bouva, Marelle J...
European Thyroid Journal. 12 (2023) 6 - p. , 2023

Link: https://doi.org/10.1530/..

9

Second-tier Testing for 21-Hydroxylase Deficiency in the Ne..:

Stroek, Kevin ; Ruiter, An ; van der Linde, Annelieke...
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 11 - p. e4487-e4496 , 2021

Link: https://doi.org/10.1210/..

10

Corrigendum: Adrenoleukodystrophy Newborn Screening in the ..:

Barendsen, Rinse W. ; Dijkstra, Inge M. E. ; Visser, Wouter F....
Frontiers in Cell and Developmental Biology. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

11

Evaluation of 11 years of newborn screening for maple syrup..:

Stroek, Kevin ; Boelen, Anita ; Bouva, Marelle J....
JIMD Reports. 54 (2020) 1 - p. 68-78 , 2020

Link: https://doi.org/10.1002/..

12

Adrenoleukodystrophy Newborn Screening in the Netherlands (..:

Barendsen, Rinse W. ; Dijkstra, Inge M. E. ; Visser, Wouter F....
Frontiers in Cell and Developmental Biology. 8 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

13

Newborn blood spot screening for cystic fibrosis with a fou..:

Dankert-Roelse, Jeannette E. ; Bouva, Marelle J. ; Jakobs, Bernadette S....
Journal of Cystic Fibrosis. 18 (2019) 1 - p. 54-63 , 2019

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

14

Recommendations for newborn screening for galactokinase def..:

Stroek, Kevin ; Bouva, Marelle J. ; Schielen, Peter C.J.I....
Molecular Genetics and Metabolism. 124 (2018) 1 - p. 50-56 , 2018

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

15

Newborn screening for Cerebrotendinous Xanthomatosis:A retr..:

Vaz, Frédéric M ; Jamal, Youssra ; Barto, Rob...
https://research.vumc.nl/en/publications/8894d4c6-9d3f-4c9c-ad77-aa0f5261aede. , 2023

Link: https://research.vumc.nl..