Andre B P van Kuilenburg
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Explore the profile of Andre B P van Kuilenburg including associated specialties, affiliations and a list of published articles.
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137
Citations
3328
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Recent Articles
1.
Matser Y, Samim A, Fiocco M, van de Mheen M, van der Ham M, de Sain-van der Velden M, et al.
JCO Precis Oncol
. 2025 Feb;
9:e2400491.
PMID: 39983076
Purpose: Urinary catecholamine metabolites are well-known biomarkers for the diagnosis (Dx) of neuroblastoma, but their clinical significance in determining therapy response during treatment is not well established. Therefore, catecholamines are...
2.
Eskes E, van Dussen L, Aerts J, van der Lienden M, Maas M, Akkerman E, et al.
JIMD Rep
. 2024 Nov;
65(5):330-340.
PMID: 39544689
The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations. We compared cross-sectional data on...
3.
Eskes E, van Dussen L, Brands M, Vaz F, Aerts J, van Kuilenburg A, et al.
J Inherit Metab Dis
. 2024 Aug;
48(1):e12789.
PMID: 39177062
Acid sphingomyelinase deficiency (ASMD) is an ultra-rare lysosomal storage disease with a broad spectrum of manifestations ranging from severe neuropathic forms to attenuated, chronic visceral forms. Manifestations of the chronic...
4.
Hayward B, Kumari D, Santra S, van Karnebeek C, van Kuilenburg A, Usdin K
Sci Rep
. 2024 Jun;
14(1):13772.
PMID: 38877099
The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most...
5.
van Kuilenburg A, Pleunis-van Empel M, Brouwer R, Sijben A, Knapen D, Oude Munnink T, et al.
JCO Precis Oncol
. 2024 May;
8:e2300599.
PMID: 38709992
A DPD deficiency should be considered in case of severe toxicity even in the absence of common risk variants in DPYD.
6.
van Karnebeek C, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, et al.
Genet Med
. 2024 Feb;
26(6):101104.
PMID: 38411040
Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders...
7.
Hayward B, Kumari D, Santra S, van Karnebeek C, van Kuilenburg A, Usdin K
bioRxiv
. 2024 Jan;
PMID: 38260514
The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most...
8.
Le Teuff G, Cozic N, Boyer J, Boige V, Diasio R, Taieb J, et al.
Br J Cancer
. 2024 Jan;
130(5):808-818.
PMID: 38225422
Background: Dihydropyrimidine dehydrogenase (DPD) deficiency is the main known cause of life-threatening fluoropyrimidine (FP)-induced toxicities. We conducted a meta-analysis on individual patient data to assess the contribution of deleterious DPYD...
9.
van der Veen S, El Sayed M, Hollak C, Brands M, Snelder C, Boekholdt S, et al.
Clin J Am Soc Nephrol
. 2023 Jul;
18(10):1272-1282.
PMID: 37499686
Background: Fabry disease is a very heterogeneous X-linked lysosomal storage disease. Disease manifestations in the kidneys, heart, and brain vary greatly, even between patients of the same sex and with...
10.
van Kuilenburg A, Hollak C, Travella A, Jacobs M, Gentilini L, Leen R, et al.
Drugs R D
. 2023 Apr;
23(2):141-153.
PMID: 37083901
Background And Objective: Fabry disease (FD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (aGal A). Since 2001, two different enzyme replacement therapies...