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1

Newborn screening for primary carnitine deficiency: who wil..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; van der Crabben, Saskia N...
Journal of Medical Genetics. 60 (2023) 12 - p. 1177-1185 , 2023

Link: https://doi.org/10.1136/..

2

A qualitative study on the perspectives of mothers who had ..:

van den Heuvel, Lieke M. ; Kater-Kuipers, Adriana ; van Dijk, Tessa...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

3

Primary carnitine deficiency is a life‐long disease:

Crefcoeur, Loek L. ; Melles, Mireille C. ; Bruning, Tobias A...
JIMD Reports. 63 (2022) 6 - p. 524-528 , 2022

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

4

Clinical characteristics of primary carnitine deficiency: A..:

Crefcoeur, Loek L. ; Visser, Gepke ; Ferdinandusse, Sacha...
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 386-405 , 2022

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

5

Assessment of carnitine excretion and its ratio to plasma f..:

Crefcoeur, Loek L. ; Heiner‐Fokkema, M. Rebecca ; Maase, Rose E...
JIMD Reports. 64 (2022) 1 - p. 57-64 , 2022

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

6

Exploring the metabolic fate of medium-chain triglycerides ..:

Knottnerus, Suzan J.G. ; van Harskamp, Dewi ; Schierbeek, Henk...
Clinical Nutrition. 40 (2021) 3 - p. 1396-1404 , 2021

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

7

Neonatal carnitine concentrations in relation to gestationa..:

Crefcoeur, Loek L. ; de Sain‐van der Velden, Monique G. M. ; Ferdinandusse, Sacha...
JIMD Reports. 56 (2020) 1 - p. 95-104 , 2020

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

8

Newborn screening for primary carnitine deficiency:Who will..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; van der Crabben, Saskia N...
https://research.rug.nl/en/publications/f77f6bd3-9582-4060-aca6-9eb919a3d2b0. , 2023

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

9

Newborn screening for primary carnitine deficiency:Who will..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; Van Der Crabben, Saskia N...
https://pure.eur.nl/en/publications/5429eb3f-b81c-4fd7-8d5b-74eee1f13cae. , 2023

Link: https://pure.eur.nl/en/p..

10

Newborn screening for primary carnitine deficiency:Who will..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; Van Der Crabben, Saskia N...
https://pure.eur.nl/en/publications/5429eb3f-b81c-4fd7-8d5b-74eee1f13cae. , 2023

Link: https://pure.eur.nl/en/p..

11

Assessment of carnitine excretion and its ratio to plasma f..:

Crefcoeur, Loek L ; Heiner-Fokkema, M. Rebecca ; Maase, Rose E..
https://research.rug.nl/en/publications/0fa33c93-d672-4682-8240-5df4a716bf79. , 2023

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

12

Newborn screening for primary carnitine deficiency:who will..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; van der Crabben, Saskia N...
https://cris.maastrichtuniversity.nl/en/publications/ad580516-998b-42c7-ac93-efa4ab8a56e3. , 2023

Link: https://cris.maastrichtu..

13

Newborn screening for primary carnitine deficiency: who wil..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; van der Crabben, Saskia N...
0022-2593. , 2023

Link: https://dspace.library.u..

14

A qualitative study on the perspectives of mothers who had ..:

van den Heuvel, Lieke M ; Kater-Kuipers, Adriana ; van Dijk, Tessa...
https://research.vumc.nl/en/publications/a24801f1-cf6c-407b-a6c6-cbd8662d4426. , 2023

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

15

Newborn screening for primary carnitine deficiency: who wil..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; van der Crabben, Saskia N...
37487700. , 2023

Link: http://hdl.handle.net/10..

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