DOI: 10.1172/jci200113419. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

10.1172/jci200113419

Crossref journal-article

American Society for Clinical Investigation

Journal of Clinical Investigation (232)

Bibliography

Schenk, B., Imbach, T., Frank, C. G., Grubenmann, C. E., Raymond, G. V., Hurvitz, H., Raas-Rotschild, A., Luder, A. S., Jaeken, J., Berger, E. G., Matthijs, G., Hennet, T., & Aebi, M. (2001). MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. Journal of Clinical Investigation, 108(11), 1687â1695.

Authors 13

Barbara Schenk (first)
Timo Imbach (additional)
Christian G. Frank (additional)
Claudia E. Grubenmann (additional)
Gerald V. Raymond (additional)
Haggit Hurvitz (additional)
Annick Raas-Rotschild (additional)
Anthony S. Luder (additional)
Jaak Jaeken (additional)
Eric G. Berger (additional)
Gert Matthijs (additional)
Thierry Hennet (additional)
Markus Aebi (additional)

References 52 Referenced 112

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Dates

Type	When
Created	23 years, 1 month ago (July 28, 2002, 7:19 p.m.)
Deposited	1 year, 7 months ago (Jan. 6, 2024, 1:50 p.m.)
Indexed	2 days, 1 hour ago (Sept. 3, 2025, 6:29 a.m.)
Issued	23 years, 9 months ago (Dec. 1, 2001)
Published	23 years, 9 months ago (Dec. 1, 2001)
Published Print	23 years, 9 months ago (Dec. 1, 2001)

Funders 0

None

BibTeX

@article{Schenk_2001, title={MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If}, volume={108}, ISSN={0021-9738}, url={http://dx.doi.org/10.1172/jci200113419}, DOI={10.1172/jci200113419}, number={11}, journal={Journal of Clinical Investigation}, publisher={American Society for Clinical Investigation}, author={Schenk, Barbara and Imbach, Timo and Frank, Christian G. and Grubenmann, Claudia E. and Raymond, Gerald V. and Hurvitz, Haggit and Raas-Rotschild, Annick and Luder, Anthony S. and Jaeken, Jaak and Berger, Eric G. and Matthijs, Gert and Hennet, Thierry and Aebi, Markus}, year={2001}, month=dec, pages={1687–1695} }

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