Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

Isolated neurological presentations of mevalonate kinase deficiency.

Hoytema van Konijnenburg EMM, Oussoren E, Frenkel J, van Hasselt PM

JIMD reports, 2023 Jan

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

Clinica chimica acta; international journal of clinical chemistry, 2022 Dec 16

doi: S0009-8981(22)01414-0

Primary carnitine deficiency is a life-long disease.

Crefcoeur LL, Melles MC, Bruning TA, Pereira RR, Langendonk JG

JIMD reports, 2022 Nov

doi: 10.1002/jmd2.12319

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

Journal of inherited metabolic disease, 2022 Aug 18

doi: 10.1002/jimd.12548

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.

Haring MPD, Peeks F, Oosterveer MH, Brouwers MCGJ, Hollak CEM, Janssen MCH, Langendonk JG, Rennings AJM, Wagenmakers MAEM, Verkade HJ, Derks TGJ, de Meijer VE

JHEP reports : innovation in hepatology, 2022 Aug

doi: 10.1016/j.jhepr.2022.100512

Neurocognitive outcome and mental health in children with Tyrosinemia type 1 and Phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ

Journal of inherited metabolic disease, 2022 Jun 20

doi: 10.1002/jimd.12528

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

Publicaties Metabole ziekten