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Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

Crossref DOI link: https://doi.org/10.1186/s12887-018-1258-9

Published Online: 2018-08-29

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Lundin, Karin E. https://orcid.org/0000-0002-1489-3028
Wang, Qing

Hamasy, Abdulrahman

Marits, Per

Uzunel, Mehmet

Wirta, Valtteri

Wikström, Ann-Charlotte

Fasth, Anders

Ekwall, Olov

Smith, C.I. Edvard
Funding

Funding for this research was provided by:

Swedish Cancer Society (CAN2013/389)

Swedish Medical Research Council (K2015-68X-11247-21-3)

Swedish County Council (ALF-2012006, ALFGBG-438361and, ALFGBG-672451)
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Article History

Received: 10 October 2017

Accepted: 17 August 2018

First Online: 29 August 2018

Ethics approval and consent to participate

: Ethical permission was obtained from the Regional Ethics Board at Karolinska Institutet Ethical permission no 144/01. Consent for genetic testing and permission to collect results from laboratory analyses as well as data from patient records were given orally by the patient’s parents as documented in the patient’s records. Written consent to publish the study was later provided by the parents.

: Laboratory results as well as data from patient records have been included in this report with written permission from the parents.

: ACW is the recipient of a grant from CSL Behring. The authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.