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Diederik De Graef
Observed name:
Diederik de Graef
Institution:
Mayo Clinic
Observed institution:
Mayo Clinic
ORCID:
0000-0002-3547-2660
Observed ORCID:
0000-0002-3547-2660
OpenAlex ID:
A5045972437
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1 ‐deficient patient‐derived dermal fibroblasts
2022
·
Rohit Budhraja
, Mayank Saraswat
, et al.
·
Journal of Inherited Metabolic Disease
·
21
PDF
Coagulation Abnormalities in a Prospective Cohort of 50 Patients with PMM2-Congenital Disorder of Glycosylation
2023
·
Diederik De Graef
, Anna N. Ligezka
, et al.
·
Molecular Genetics and Metabolism
·
17
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants
2022
·
Jehan Mousa
, Larissa Veres
, et al.
·
Molecular Genetics and Metabolism Reports
·
12
PDF
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases
2023
·
Ruqaiah Altassan
, Michael M. Allers
, et al.
·
Molecular Genetics and Metabolism
·
5
Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature
2022
·
Diederik De Graef
, Jehan Mousa
, et al.
·
Therapeutic Advances in Rare Disease
·
4
Coagulation Abnormalities in Pmm2-cdg: Natural History Studies in 50 Cases
2023
·
Anna Ligezka
, Diederik de Graef
, et al.
·
Molecular Genetics and Metabolism
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Works count:
6
Citation count:
59
H-index:
4
I10-index:
3
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