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Publicaties Metabole ziekten

143 resultaten

Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.

Bongaerts M, Bonte R, Demirdas S, Huidekoper HH, Langendonk J, Wilke M, de Valk W, Blom HJ, Reinders MJT, Ruijter GJG

Molecular genetics and metabolism, 2022 May 25

doi: 10.1016/j.ymgme.2022.05.002

Effect of anti-iduronidase sulfatase in patients with Mucopolysaccharidosis type II treated with enzyme replacement therapy.

Vollebregt AAM, Hoogeveen-Westerveld M, Ruijter GJ, van den Hout H, Oussoren E, van der Ploeg AT, Pijnappel WWMP

The Journal of pediatrics, 2022 May 11

doi: 10.1016/j.jpeds.2022.05.008

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.

Mathis D, Croft J, Chrastina P, Fowler B, Vianey-Saban C, Ruijter GJG

Journal of inherited metabolic disease, 2022 Sep

doi: 10.1002/jimd.12523

Off-resonance saturation as an MRI method to quantify mineral- iron in the post-mortem brain.

Bossoni L, Hegeman-Kleinn I, van Duinen SG, Bulk M, Vroegindeweij LHP, Langendonk JG, Hirschler L, Webb A, van der Weerd L

Magnetic resonance in medicine, 2022 03

doi: 10.1002/mrm.29041

Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects.

Timmer C, Davids M, Nieuwdorp M, Levels JHM, Langendonk JG, Breederveld M, Ahmadi Mozafari N, Langeveld M

Molecular genetics and metabolism reports, 2021 Dec

doi: 10.1016/j.ymgmr.2021.100794

Associations of maternal bisphenol urine concentrations during pregnancy with neonatal metabolomic profiles.

Blaauwendraad SM, Voerman E, Trasande L, Kannan K, Santos S, Ruijter GJG, Sol CM, Marchioro L, Shokry E, Koletzko B, Jaddoe VWV, Gaillard R

Metabolomics : Official journal of the Metabolomic Society, 2021 Sep 13

doi: 10.1007/s11306-021-01836-w

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, Blom HJ

JIMD reports, 2021 Sep

doi: 10.1002/jmd2.12223

Maternal Body Mass Index, Early-Pregnancy Metabolite Profile, and Birthweight.

Wahab RJ, Jaddoe VWV, Voerman E, Ruijter GJG, Felix JF, Marchioro L, Uhl O, Shokry E, Koletzko B, Gaillard R

The Journal of clinical endocrinology and metabolism, 2022 Jan 01

doi: 10.1210/clinem/dgab596

Associations of maternal and infant metabolite profiles with foetal growth and the odds of adverse birth outcomes.

Voerman E, Jaddoe VWV, Shokry E, Ruijter GJG, Felix JF, Koletzko B, Gaillard R

Pediatric obesity, 2022 Feb

doi: 10.1111/ijpo.12844

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.

Bongaerts M, Bonte R, Demirdas S, Jacobs EH, Oussoren E, van der Ploeg AT, Wagenmakers MAEM, Hofstra RMW, Blom HJ, Reinders MJT, Ruijter GJG

Metabolites, 2020 Dec 25

doi: 10.3390/metabo11010008

"Building bridges"-An opportunity to connect, inspire, and innovate. SSIEM 2019 Annual Symposium in Rotterdam, The Netherlands.

van der Ploeg AT

Journal of inherited metabolic disease, 2021 01

doi: 10.1002/jimd.12352

An international classification of inherited metabolic disorders (ICIMD).

Ferreira CR, Rahman S, Keller M, Zschocke J,

Journal of inherited metabolic disease, 2021 01

doi: 10.1002/jimd.12348