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Sjouke, Barbara
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1

Acid sphingomyelinase deficiency and Gaucher disease in adu..:

Eskes, Eline C. B. ; van Dussen, Laura ; Aerts, Johannes M. F. G....
JIMD Reports.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Consensus clinical management guidelines for acid sphingomy..:

Geberhiwot, Tarekegn ; Wasserstein, Melissa ; Wanninayake, Subadra...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

Glycoprotein non-metastatic protein B (GPNMB) plasma values..:

Eskes, Eline C.B. ; van der Lienden, Martijn J.C. ; Sjouke, Barbara...
Molecular Genetics and Metabolism.  139 (2023)  4 - p. 107631 , 2023
Link: https://doi.org/10.1016/..
 
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4

Patients' view on gene therapy development for lysosomal st..:

Eskes, Eline C. B. ; Beishuizen, Cathrien R. L. ; Corazolla, Eleonore M....
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

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/..
 
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6

Biochemical and imaging parameters in acid sphingomyelinase..:

Eskes, Eline C.B. ; Sjouke, Barbara ; Vaz, Frédéric M....
Molecular Genetics and Metabolism.  130 (2020)  1 - p. 16-26 , 2020
Link: https://doi.org/10.1016/..
 
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7

The clinical and molecular diversity of homozygous familial..:

Luirink, Ilse K. ; Braamskamp, Marjet J.A.M. ; Wiegman, Albert...
Journal of Clinical Lipidology.  13 (2019)  2 - p. 272-278 , 2019
Link: https://doi.org/10.1016/..
 
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8

Screening for lysosomal acid lipase deficiency: A retrospec..:

Draijer, Laura G. ; Bosch, Annet M. ; Wiegman, Albert...
Atherosclerosis.  278 (2018)  - p. 174-179 , 2018
Link: https://doi.org/10.1016/..
 
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9

Plasma lipoprotein(a) levels in patients with homozygous au..:

Sjouke, Barbara ; Yahya, Reyhana ; Tanck, Michael W.T....
Journal of Clinical Lipidology.  11 (2017)  2 - p. 507-514 , 2017
Link: https://doi.org/10.1016/..
 
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10

Effects of Supra-Physiological Levothyroxine Dosages on Liv..:

Sjouke, Barbara ; Elbers, Laura P. B. ; van Zaane, Bregje...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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11

Lipoprotein(a) improves cardiovascular risk prediction base..:

Verbeek, Rutger ; Sandhu, Manjinder ; Hovingh, G. Kees...
Atherosclerosis.  263 (2017)  - p. e27-e28 , 2017
Link: https://doi.org/10.1016/..
 
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12

Phenotype diversity among patients with homozygous familial..:

Raal, Frederick J. ; Sjouke, Barbara ; Hovingh, G. Kees.
Atherosclerosis.  248 (2016)  - p. 238-244 , 2016
Link: https://doi.org/10.1016/..
 
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13

Children with hypercholesterolemia of unknown cause: Value ..:

Sjouke, Barbara ; Tanck, Michael W.T. ; Fouchier, Sigrid W....
Journal of Clinical Lipidology.  10 (2016)  4 - p. 851-859 , 2016
Link: https://doi.org/10.1016/..
 
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14

Double-heterozygous autosomal dominant hypercholesterolemia..:

Sjouke, Barbara ; Defesche, Joep C. ; Hartgers, Merel L....
Journal of Clinical Lipidology.  10 (2016)  6 - p. 1462-1469 , 2016
Link: https://doi.org/10.1016/..
 
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15

Sequencing forLIPAmutations in patients with a clinical dia..:

Sjouke, Barbara ; Defesche, Joep C. ; de Randamie, Janine S.E....
Atherosclerosis.  251 (2016)  - p. 263-265 , 2016
Link: https://doi.org/10.1016/..
 
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