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Conference item : Poster

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Abstract:: Section 06: Metabolic and mitochondrial disorders
Poster: P06.06B

Publication status:: Published

Peer review status:: Peer reviewed

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APA Style

Mastantuono, E., Repp, B., Alston, C. L., Schiff, M., Haack, T. B., Rotig, A., Ardissone, A., Lombes, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D., … Wortmann, S. (2019). Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? European Journal of Human Genetics, 27(Supplement 1), 169.

MLA Style

Mastantuono, E., et al. “Clinical, Biochemical and Genetic Spectrum of 70 Patients with ACAD9 Deficiency: Is Riboflavin Supplementation Effective?” European Journal of Human Genetics, vol. 27, no. Supplement 1, Springer Nature, 2019, p. 169.

Chicago Style

Mastantuono, E, B Repp, CL Alston, M Schiff, TB Haack, A Rotig, A Ardissone, et al. 2019. “Clinical, Biochemical and Genetic Spectrum of 70 Patients with ACAD9 Deficiency: Is Riboflavin Supplementation Effective?” In European Journal of Human Genetics, 27:169. Springer Nature.
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Publisher copy:: 10.1038/s41431-019-0404-7

Authors

+ Mastantuono, E More by this author

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Author

+ Repp, B More by this author

Role:

Author

+ Alston, CL More by this author

Role:

Author

+ Schiff, M More by this author

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Author

+ Haack, TB More by this author

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Author

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Funding

+ Newlife the Charity for Disabled Children More from this funder

Grant:

SG/16-17/01

SG/12-13/01

+ Wellcome Trust More from this funder

Grant:

094868/Z/10/Z

Foundation for Paediatric Research More from this funder

Bibliographic Details

Publisher:: Springer Nature Publisher's website
Journal:: European Journal of Human Genetics Journal website
Volume:: 27
Issue:: Supplement 1
Article number:: P06.06B
Pages:: 169
Publication date:: 2019-07-03
Event title:: 51st European Society of Human Genetics Conference
Event location:: Fiera Milano Congressi, Milan, Italy
Event website:: https://2018.eshg.org/
Event start date:: 2018-06-16
Event end date:: 2018-06-19
DOI:: 10.1038/s41431-019-0404-7
EISSN:: 1476-5438
ISSN:: 1018-4813

Item Description

Language:: English
Keywords:: FFR
Subtype:: Poster
Pubs id:: 1070354
Local pid:: pubs:1070354
Deposit date:: 2021-03-06

Terms of use

Copyright holder:: European Society of Human Genetics
Copyright date:: 2019
Rights statement:: © European Society of Human Genetics 2019

Licence:: Terms and Conditions of Use for Oxford University Research Archive

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