Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

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

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M,

Journal of inherited metabolic disease, 2021 05

doi: 10.1002/jimd.12338

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.

Welsink-Karssies MM, Schrantee A, Caan MWA, Hollak CEM, Janssen MCH, Oussoren E, de Vries MC, Roosendaal SD, Engelen M, Bosch AM

Molecular genetics and metabolism, 2020 12

doi: 10.1016/j.ymgme.2020.11.001

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.

Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, Langendonk JG, van der Lee JH, O'Flaherty R, Oostrom KJ, Roosendaal SD, Rubio-Gozalbo ME, Saldova R, Treacy EP, Vaz FM, de Vries MC, Engelen M, Bosch AM

Brain communications, 2020

doi: 10.1093/braincomms/fcaa006

Publicaties Metabole ziekten