Sjouke B - Search Results

1

Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

Crefcoeur LL, Visser G, Ferdinandusse S, Wijburg FA, Langeveld M, Sjouke B. Crefcoeur LL, et al. Among authors: sjouke b. J Inherit Metab Dis. 2022 May;45(3):386-405. doi: 10.1002/jimd.12475. Epub 2022 Feb 3. J Inherit Metab Dis. 2022. PMID: 34997761 Free PMC article. Review.

2

Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.

Eskes ECB, Beishuizen CRL, Corazolla EM, van Middelaar T, Brands MMMG, Dekker H, van de Mheen E, Langeveld M, Hollak CEM, Sjouke B. Eskes ECB, et al. Among authors: sjouke b. Orphanet J Rare Dis. 2022 Oct 21;17(1):383. doi: 10.1186/s13023-022-02543-y. Orphanet J Rare Dis. 2022. PMID: 36271424 Free PMC article.

3

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.

Eskes ECB, van Dussen L, Brands MMMG, Vaz FM, Aerts JMFG, van Kuilenburg ABP, Sjouke B, Hollak CEM. Eskes ECB, et al. Among authors: sjouke b. J Inherit Metab Dis. 2024 Aug 23. doi: 10.1002/jimd.12789. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39177062

4

Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.

Corazolla EM, Eskes ECB, Veldwijk J, Brands MMMG, Dekker H, van de Mheen E, Langeveld M, Hollak CEM, Sjouke B. Corazolla EM, et al. Among authors: sjouke b. Orphanet J Rare Dis. 2024 Oct 3;19(1):367. doi: 10.1186/s13023-024-03371-y. Orphanet J Rare Dis. 2024. PMID: 39363355 Free PMC article.

5

Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.

Draijer LG, Bosch AM, Wiegman A, Sjouke B, Benninga MA, Koot BGP. Draijer LG, et al. Among authors: sjouke b. Atherosclerosis. 2018 Nov;278:174-179. doi: 10.1016/j.atherosclerosis.2018.09.023. Epub 2018 Sep 19. Atherosclerosis. 2018. PMID: 30286343

6

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.

Eskes ECB, Sjouke B, Vaz FM, Goorden SMI, van Kuilenburg ABP, Aerts JMFG, Hollak CEM. Eskes ECB, et al. Among authors: sjouke b. Mol Genet Metab. 2020 May;130(1):16-26. doi: 10.1016/j.ymgme.2020.02.002. Epub 2020 Feb 12. Mol Genet Metab. 2020. PMID: 32088119 Review.

7

Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.

Sjouke B, van der Stappen JW, Groener JE, Pepping A, Wevers RA, Gouw A, Dikkeschei LD, Mijnhout S, Hovingh GK, Alleman MA. Sjouke B, et al. Neth J Med. 2015 Mar;73(3):129-32. Neth J Med. 2015. PMID: 25852113 Free article.

8

Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.

Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ, Roeters van Lennep JE, Stalenhoef AF, Wiegman A, de Graaf J, Fouchier SW, Kastelein JJ, Hovingh GK. Sjouke B, et al. Eur Heart J. 2015 Mar 1;36(9):560-5. doi: 10.1093/eurheartj/ehu058. Epub 2014 Feb 28. Eur Heart J. 2015. PMID: 24585268

9

Screening and treatment of familial hypercholesterolemia - Lessons from the past and opportunities for the future (based on the Anitschkow Lecture 2014).

Besseling J, Sjouke B, Kastelein JJ. Besseling J, et al. Among authors: sjouke b. Atherosclerosis. 2015 Aug;241(2):597-606. doi: 10.1016/j.atherosclerosis.2015.06.011. Epub 2015 Jun 9. Atherosclerosis. 2015. PMID: 26115072 Review.

10

Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study.

Raal FJ, Sjouke B, Hovingh GK, Isaac BF. Raal FJ, et al. Among authors: sjouke b. Atherosclerosis. 2016 May;248:238-44. doi: 10.1016/j.atherosclerosis.2016.03.009. Epub 2016 Mar 11. Atherosclerosis. 2016. PMID: 27017151 Free article. Clinical Trial.

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