Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

242 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
Vaz FM, Jamal Y, Barto R, Gelb MH, DeBarber AE, Wevers RA, Nelen MR, Verrips A, Bootsma AH, Bouva MJ, Kleise N, van der Zee W, He T, Salomons GS, Huidekoper HH. Vaz FM, et al. Among authors: salomons gs. Clin Chim Acta. 2023 Jan 15;539:170-174. doi: 10.1016/j.cca.2022.12.011. Epub 2022 Dec 16. Clin Chim Acta. 2023. PMID: 36529270 Free PMC article.
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Vaz FM, Staps P, van Klinken JB, van Lenthe H, Vervaart M, Wanders RJA, Pras-Raves ML, van Weeghel M, Salomons GS, Ferdinandusse S, Wevers RA, Willemsen MAAP. Vaz FM, et al. Among authors: salomons gs. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Mar;1869(2):159447. doi: 10.1016/j.bbalip.2023.159447. Epub 2024 Jan 3. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 38181883 Free article.
Ophthalmic acid is a glutathione regulating tripeptide.
Schomakers BV, Jillings SL, van Weeghel M, Vaz FM, Salomons GS, Janssens GE, Houtkooper RH. Schomakers BV, et al. Among authors: salomons gs. FEBS J. 2024 Jan 20. doi: 10.1111/febs.17061. Online ahead of print. FEBS J. 2024. PMID: 38245827
Sulfate: a neglected (but potentially highly relevant) anion.
den Bakker E, Smith DEC, Finken MJJ, Wamelink MMC, Salomons GS, van de Kamp JM, Bökenkamp A. den Bakker E, et al. Among authors: salomons gs. Essays Biochem. 2024 Apr 19:EBC20230097. doi: 10.1042/EBC20230097. Online ahead of print. Essays Biochem. 2024. PMID: 38639060
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
van Kuilenburg ABP, Pleunis-van Empel MCH, Brouwer RB, Sijben AEJ, Knapen DG, Oude Munnink TH, van Zanden JJ, Janssens-Puister J, Dobritzsch D, Meinsma R, Meijer-Jansen J, van Dooren SJM, Vijzelaar R, Pop A, Salomons GS, Maring JG, Niezen-Koning KE. van Kuilenburg ABP, et al. Among authors: salomons gs. JCO Precis Oncol. 2024 May;8:e2300599. doi: 10.1200/PO.23.00599. JCO Precis Oncol. 2024. PMID: 38709992
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.
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.
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B. Bögershausen N, et al. Among authors: salomons gs. Hum Mutat. 2022 Oct;43(10):1454-1471. doi: 10.1002/humu.24430. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35790048
242 results