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Page 1
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: wamelink mmc. Essays Biochem. 2024 Apr 19:EBC20230097. doi: 10.1042/EBC20230097. Online ahead of print. Essays Biochem. 2024. PMID: 38639060
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Ferreira EA, Buijs MJN, Wijngaard R, Daams JG, Datema MR, Engelen M, van Karnebeek CDM, Oud MM, Vaz FM, Wamelink MMC, van der Crabben SN, Langeveld M. Ferreira EA, et al. Among authors: wamelink mmc. Front Neurol. 2023 Jul 25;14:1206106. doi: 10.3389/fneur.2023.1206106. eCollection 2023. Front Neurol. 2023. PMID: 37560457 Free PMC article.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM. Peters TMA, et al. Among authors: wamelink mmc. J Inherit Metab Dis. 2024 May;47(3):417-430. doi: 10.1002/jimd.12657. Epub 2023 Jul 29. J Inherit Metab Dis. 2024. PMID: 37455357
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Rumping L, Pouwels PJW, Wolf NI, Rehmann H, Wamelink MMC, Waisfisz Q, Jans JJM, Prinsen HCMT, van de Kamp JM, van Hasselt PM. Rumping L, et al. Among authors: wamelink mmc. JIMD Rep. 2023 Feb 24;64(3):217-222. doi: 10.1002/jmd2.12359. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151363 Free PMC article.
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
van de Kamp JM, Bökenkamp A, Smith DEC, Wamelink MMC, Jansen EEW, Struys EA, Waisfisz Q, Verkleij M, Hartmann MF, Wang R, Wudy SA, Paganini C, Rossi A, Finken MJJ. van de Kamp JM, et al. Among authors: wamelink mmc. Clin Genet. 2023 Jan;103(1):45-52. doi: 10.1111/cge.14239. Epub 2022 Oct 3. Clin Genet. 2023. PMID: 36175384 Free PMC article.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM. Hermans ME, et al. Among authors: wamelink mmc. J Inherit Metab Dis. 2022 Nov;45(6):1094-1105. doi: 10.1002/jimd.12548. Epub 2022 Aug 25. J Inherit Metab Dis. 2022. PMID: 36053831
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.
Kuijpers TW, de Vries ACH, van Leeuwen EM, Ermens ATAM, de Pont S, Smith DEC, Wamelink MMC, Mensenkamp AR, Nelen MR, Lango Allen H, Pals ST, Beverloo BHB, Huidekoper HH, Wagner A. Kuijpers TW, et al. Among authors: wamelink mmc. Blood Adv. 2022 Nov 22;6(22):5829-5834. doi: 10.1182/bloodadvances.2022007233. Blood Adv. 2022. PMID: 35977078 Free PMC article. No abstract available.
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.
Coene KLM, Timmer C, Goorden SMI, Ten Hoedt AE, Kluijtmans LAJ, Janssen MCH, Rennings AJM, Prinsen HCMT, Wamelink MMC, Ruijter GJG, Körver-Keularts IMLW, Heiner-Fokkema MR, van Spronsen FJ, Hollak CE, Vaz FM, Bosch AM, Huigen MCDG. Coene KLM, et al. Among authors: wamelink mmc. JIMD Rep. 2020 Nov 22;58(1):70-79. doi: 10.1002/jmd2.12186. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728249 Free PMC article.
55 results