A mild phenotype of dihydropyrimidine dehydrogenase deficiency and 
developmental retardation associated with a missense mutation affecting 
cofactor binding

Weidensee, S.; Goettig, P.; Bertone, M.; Haas, D.; Magdolen, V.; Kiechle, M.; Meindl, A.; van Kuilenburg, A. B. P.; Gross, E.

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A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding

Weidensee, S., Goettig, P., Bertone, M., Haas, D., Magdolen, V., Kiechle, M., et al. (2011). A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. Clinical Biochemistry, 44(8-9), 722-724.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-5429-A Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-542A-8

Genre: Journal Article

Alternative Title : Clin. Biochem.

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Creators:
Weidensee, S., Author
Goettig, P.^{1, 2}, Author
Bertone, M., Author
Haas, D., Author
Magdolen, V., Author
Kiechle, M., Author
Meindl, A., Author
van Kuilenburg, A. B. P., Author
Gross, E., Author

Affiliations:
1Fässler, Reinhard / Molecular Medicine, Max Planck Institute of Biochemistry, Max Planck Society, ou_1565147
2Huber, Robert / Structure Research, Max Planck Institute of Biochemistry, Max Planck Society, ou_1565155

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Free keywords: DPD deficiency; DPYD; Protein structure; Developmental retardation

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Language(s): eng - English

Dates: Date issued: 2011-06

Publication Status: Issued

Pages: -

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Table of Contents: -

Rev. Type: Peer

Identifiers: eDoc: 569843
ISI: 000291081400028

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Title: Clinical Biochemistry

Alternative Title : Clin. Biochem.

Source Genre: Journal

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Publ. Info: OXFORD : PERGAMON-ELSEVIER SCIENCE LTD

Pages: - Volume / Issue: 44 (8-9) Sequence Number: - Start / End Page: 722 - 724 Identifier: ISSN: 0009-9120