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Page 1
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S. Albersen M, et al. Among authors: salomons gs. J Inherit Metab Dis. 2023 Jan;46(1):116-128. doi: 10.1002/jimd.12571. Epub 2022 Oct 26. J Inherit Metab Dis. 2023. PMID: 36256460 Free PMC article.
X-linked creatine transporter defect: an overview.
Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. Salomons GS, et al. J Inherit Metab Dis. 2003;26(2-3):309-18. doi: 10.1023/a:1024405821638. J Inherit Metab Dis. 2003. PMID: 12889669 Review.
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.
Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG. Riemersma M, et al. Among authors: salomons gs. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. Eur J Hum Genet. 2017. PMID: 28853722 Free PMC article.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp ME, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC. Williams M, et al. Among authors: salomons gs. J Inherit Metab Dis. 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036. J Inherit Metab Dis. 2019. PMID: 30740741
Disorders of fatty acid homeostasis.
Vaz FM, Ferdinandusse S, Salomons GS, Wanders RJA. Vaz FM, et al. Among authors: salomons gs. J Inherit Metab Dis. 2024 May 1. doi: 10.1002/jimd.12734. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38693715 Review.
257 results