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Lubout, Charlotte
56
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Online (56)
Mediatypes
Articles (Online) (20)
Bookchapter (Online) (1)
OpenAccess-fulltext (35)
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1
Consensus guidelines for the diagnosis and management of is..:
Schwahn, Bernd C.
;
van Spronsen, Francjan
;
Misko, Albert
...
Journal of Inherited Metabolic Disease. 47 (2024) 4 - p. 598-623 , 2024
Link:
https://doi.org/10.1002/..
?
2
Hereditary folate malabsorption due to a mutation in the ex..:
Aluri, Srinivas
;
Zhao, Rongbao
;
Lubout, Charlotte
...
Blood Advances. 2 (2018) 1 - p. 61-68 , 2018
Link:
https://doi.org/10.1182/..
?
3
A Delphi Survey Study to Formulate Statements on the Treata..:
Veldman, Abigail
;
Kiewiet, M. B. Gea
;
Westra, Dineke
...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 56 , 2023
Link:
https://doi.org/10.3390/..
?
4
Correction: Ketogenic diet as a glycine lowering therapy in..:
Shelkowitz, Emily
;
Saneto, Russell P.
;
Al-Hertani, Walla
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
5
A False-Negative Newborn Screen for Tyrosinemia Type 1—Need..:
Dijkstra, Allysa M.
;
Evers-van Vliet, Kimber
;
Heiner-Fokkema, M. Rebecca
...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 66 , 2023
Link:
https://doi.org/10.3390/..
?
6
THE IMPACT OF GLYCINE LOWERING THERAPIES IN NONKETOTIC HYPE..:
Shelkowitz, Emily
;
Saneto, Russell P.
;
Al-Hertani, Walla
...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 299 , 2022
Link:
https://doi.org/10.1016/..
?
7
Expanding the clinical spectrum of primary coenzyme Q10 def..:
Leeuwen, Lisette
;
Lubout, Charlotte M. A.
;
Nijenhuis, Hessel P.
...
Clinical Genetics. 102 (2022) 4 - p. 350-351 , 2022
Link:
https://doi.org/10.1111/..
?
8
Communication of an Abnormal Metabolic New-Born Screening R..:
Haitjema, Sietske
;
Lubout, Charlotte M. A.
;
Zijlstra, Justine H. M.
..
Nutrients. 14 (2022) 19 - p. 3961 , 2022
Link:
https://doi.org/10.3390/..
?
9
Ketogenic diet as a glycine lowering therapy in nonketotic ..:
Shelkowitz, Emily
;
Saneto, Russell P.
;
Al-Hertani, Walla
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
10
Dietary treatment in Dutch children with phenylketonuria: A..:
Haitjema, Sietske
;
Lubout, Charlotte M.A.
;
Abeln, David
...
Nutrition. 97 (2022) - p. 111576 , 2022
Link:
https://doi.org/10.1016/..
?
11
Disorders of Carbohydrate Absorption, Transmembrane Transpo..:
, In:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
,
Derks, Terry G. J.
;
Lubout, Charlotte M. A.
;
Woidy, Mathias
. - p. 649-700 , 2022
Link:
https://doi.org/10.1007/..
?
12
A retrospective study of eating and psychosocial problems i..:
Venema, Annieke
;
Peeks, Fabian
;
de Bruijn‐van der Veen, Marlies
...
JIMD Reports. 63 (2021) 1 - p. 29-40 , 2021
Link:
https://doi.org/10.1002/..
?
13
A generic emergency protocol for patients with inborn error..:
Rossi, Alessandro
;
Hoogeveen, Irene J.
;
Lubout, Charlotte M. A.
...
Journal of Inherited Metabolic Disease. 44 (2021) 5 - p. 1124-1135 , 2021
Link:
https://doi.org/10.1002/..
?
14
Bone mineral density is within normal range in most adult p..:
Lubout, Charlotte M. A.
;
Arrieta Blanco, Francisco
;
Bartosiewicz, Katarzyna
...
Journal of Inherited Metabolic Disease. 43 (2020) 2 - p. 251-258 , 2020
Link:
https://doi.org/10.1002/..
?
15
Successful Treatment of Hereditary Folate Malabsorption Wit..:
Lubout, Charlotte M.A.
;
Goorden, Susanna M.I.
;
van den Hurk, Karin
...
Pediatric Neurology. 102 (2020) - p. 62-66 , 2020
Link:
https://doi.org/10.1016/..
1-15