menu
  1. Home
  2. Metabole ziekten
  3. Research
  4. Publicaties

Publicaties Metabole ziekten

92 resultaten

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Welsink-Karssies MM, Oostrom KJ, Hermans ME, Hollak CEM, Janssen MCH, Langendonk JG, Oussoren E, Rubio Gozalbo ME, de Vries M, Geurtsen GJ, Bosch AM

Orphanet journal of rare diseases, 2020 09 07

doi: 10.1186/s13023-020-01447-z

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease.

Ernst MPT, Broeders M, Herrero-Hernandez P, Oussoren E, van der Ploeg AT, Pijnappel WWMP

Molecular therapy. Methods & clinical development, 2020 Sep 11

doi: 10.1016/j.omtm.2020.06.022

Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.

Hong X, Daiker J, Sadilek M, DeBarber AE, Chiang J, Duan J, Bootsma AH, Huidekoper HH, Vaz FM, Gelb MH

Genetics in medicine : official journal of the American College of Medical Genetics, 2020 10

doi: 10.1038/s41436-020-0846-x

Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.

Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M

Blood, 2020 08 27

doi: 10.1182/blood.2019004465

No evidence for an association of plasma homocysteine levels and refractive error - Results from the population-based Gutenberg Health Study (GHS).

Nickels S, Blom HJ, Schulz A, Joachimsen L, Münzel T, Wild PS, Beutel ME, Blettner M, Lackner KJ, Pfeiffer N, Lagrèze WA

PloS one, 2020

doi: 10.1371/journal.pone.0231011

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

Weber Hoss GR, Sperb-Ludwig F, Schwartz IVD, Blom HJ

Molecular genetics & genomic medicine, 2020 06

doi: 10.1002/mgg3.1214

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature.

Molema F, Williams M, Langendonk J, Darwish-Murad S, van de Wetering J, Jacobs E, Onkenhout W, Brusse E, van der Eerden A, Wagenmakers M

JIMD reports, 2020 Jan

doi: 10.1002/jmd2.12088

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Welsink-Karssies MM, Oostrom KJ, Hermans ME, Hollak CEM, Janssen MCH, Langendonk JG, Oussoren E, Rubio Gozalbo ME, de Vries M, Geurtsen GJ, Bosch AM

Orphanet journal of rare diseases, 2020 02 07

doi: 10.1186/s13023-019-1277-0

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM

Molecular genetics and metabolism, 2020 03

doi: 10.1016/j.ymgme.2020.01.002

Sharpening the Molecular Scissors: Advances in Gene-Editing Technology.

Broeders M, Herrero-Hernandez P, Ernst MPT, van der Ploeg AT, Pijnappel WWMP

iScience, 2020 Jan 24

doi: 10.1016/j.isci.2019.100789

The 1- C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.

Welsink-Karssies MM, van Harskamp D, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, Kemper EM, Langendonk JG, Rubio-Gozalbo ME, de Vries MC, Wijburg FA, Schierbeek H, Bosch AM

Journal of inherited metabolic disease, 2020 05

doi: 10.1002/jimd.12207

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

Bonte R, Bongaerts M, Demirdas S, Langendonk JG, Huidekoper HH, Williams M, Onkenhout W, Jacobs EH, Blom HJ, Ruijter GJG

Metabolites, 2019 Nov 26

doi: 10.3390/metabo9120289