Diederik De Graef

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Publications (4)

• Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
  Molecular genetics and metabolism 2023 DOI: 10.1016/j.ymgme.2023.107606
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• N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
  Rohit Budhraja, Mayank Saraswat, Diederik De Graef +6 more
  Journal of inherited metabolic disease 2022 DOI: 10.1002/jimd.12557
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• Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.
  Molecular genetics and metabolism reports 2022 DOI: 10.1016/j.ymgmr.2022.100901
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• Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature
  Therapeutic Advances in Rare Disease 2022 DOI: 10.1177/26330040221091283
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