Kingma SD - Search Results

1

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

Kingma SD, Bodamer OA, Wijburg FA. Kingma SD, et al. Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 25987169 Review.

2

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models.

Kingma SD, Wagemans T, IJlst L, Wijburg FA, van Vlies N. Kingma SD, et al. J Inherit Metab Dis. 2014 Sep;37(5):813-21. doi: 10.1007/s10545-014-9703-x. Epub 2014 Apr 4. J Inherit Metab Dis. 2014. PMID: 24699889

3

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model.

Kingma SD, Wagemans T, IJlst L, Seppen J, Gijbels MJ, Wijburg FA, van Vlies N. Kingma SD, et al. JIMD Rep. 2015;23:77-83. doi: 10.1007/8904_2015_432. Epub 2015 Apr 9. JIMD Rep. 2015. PMID: 25854773 Free PMC article.

4

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease.

Kingma SDK, Wagemans T, IJlst L, Bronckers ALJJ, van Kuppevelt TH, Everts V, Wijburg FA, van Vlies N. Kingma SDK, et al. Bone. 2016 Jul;88:92-100. doi: 10.1016/j.bone.2016.01.029. Epub 2016 Apr 19. Bone. 2016. PMID: 27105565

5

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Kingma SD, Langereis EJ, de Klerk CM, Zoetekouw L, Wagemans T, Ĳlst L, Wanders RJ, Wijburg FA, van Vlies N. Kingma SD, et al. Orphanet J Rare Dis. 2013 Jul 9;8:99. doi: 10.1186/1750-1172-8-99. Orphanet J Rare Dis. 2013. PMID: 23837464 Free PMC article.

6

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Kingma SDK, Jonckheere AI. Kingma SDK, et al. J Inherit Metab Dis. 2021 Nov;44(6):1289-1310. doi: 10.1002/jimd.12431. Epub 2021 Sep 15. J Inherit Metab Dis. 2021. PMID: 34480380 Review.

7

Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

Kingma SDK, Ceulemans B, Kenis S, Jonckheere AI. Kingma SDK, et al. JIMD Rep. 2021 Mar 18;59(1):90-103. doi: 10.1002/jmd2.12204. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977034 Free PMC article.

8

Recurrent Isolated Sixth Nerve Palsy in Childhood-Review on a Rare Phenomenon.

Kingma SDK, Ceulemans B. Kingma SDK, et al. Neuropediatrics. 2022 Jun;53(3):151-158. doi: 10.1055/s-0041-1741385. Epub 2022 Jan 6. Neuropediatrics. 2022. PMID: 34991161

9

Natural history of three late-diagnosed classic Galactosemia patients.

Quelhas D, Kingma SDK, Jonckheere AI, Smeets-Peels CS, Gomes DC, Duro J, Oliveira A, Matthijs G, Steinbusch LKM, Jaeken J, Rivera I, Rubio-Gozalbo E. Quelhas D, et al. Among authors: kingma sdk. Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469096 Free PMC article.

10

Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: kingma sdk. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.

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