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39 resultaten

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

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

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

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

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