Journal ID (nlm-ta): J Inherit Metab Dis
Journal ID (iso-abbrev): J. Inherit. Metab. Dis
Title:
Journal of Inherited Metabolic Disease
Publisher:
Springer Netherlands
(Dordrecht
)
ISSN
(Print):
0141-8955
ISSN
(Electronic):
1573-2665
Publication date
(Electronic):
16
January
2018
Publication date PMC-release: 16
January
2018
Publication date
(Print):
2018
Volume: 41
Issue: 3
Pages: 555-562
Affiliations
[1
]ISNI 0000 0001 2288 9830, GRID grid.17091.3e, Centre for Molecular Medicine and Therapeutics, BC Children’s Hospital Research Institute,
, University of British Columbia, ; Room 3109, 950 West 28th Avenue, Vancouver, BC V5Z 4H4 Canada
[2
]ISNI 0000 0001 0702 3000, GRID grid.248762.d, Canada’s Michael Smith Genome Sciences Centre, , BC Cancer Agency, ; Vancouver, BC Canada
[3
]ISNI 0000 0001 2288 9830, GRID grid.17091.3e, Department of Medical Genetics, , University of British Columbia, ; Vancouver, BC Canada
[4
]Dietmar-Hopp Metabolic Center, Department of General Pediatrics, University Hospital,
Heidelberg, Germany
[5
]ISNI 0000 0001 2288 9830, GRID grid.17091.3e, Department of Pediatrics, , University of British Columbia, ; Vancouver, BC Canada
[6
]ISNI 0000000404654431, GRID grid.5650.6, Departments of Pediatrics and Clinical Genetics, Emma Children’s Hospital, , Academic Medical Centre, ; Amsterdam, The Netherlands
Author notes
Responsible Editor: Verena Peters
Author information
Article
Publisher ID:
125
DOI: 10.1007/s10545-017-0125-4
PMC ID: 5959948
PubMed ID: 29340838
SO-VID: ee242714-4685-4d29-9353-ab4021169229
Copyright © © The Author(s) 2018
License:
Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits
unrestricted use, distribution, and reproduction in any medium, provided you give
appropriate credit to the original author(s) and the source, provide a link to the
Creative Commons license, and indicate if changes were made.
Funded by: BC Children's Hospital Foundation
Award ID: Treatable Intellectual Disability Endeavour in British Columbia: 1st Collaborative
Area of Innovation
Award ID: Treatable Intellectual Disability Endeavour in British Columbia: 1st Collaborative
Area of Innovation
Award ID: Jan M. Friedman Studentship
Award Recipient
:
Wyeth W. Wasserman
Funded by: FundRef http://dx.doi.org/10.13039/501100000024, Canadian Institutes of Health Research;
Funded by: Genome Canada/Genome British Columbia/CIHR
Award ID: Large Scale Applied Research Grant ABC4DE project (174CDE)
Award Recipient
:
Wyeth W. Wasserman
Funded by: FundRef http://dx.doi.org/10.13039/501100000245, Michael Smith Foundation for Health Research;
Award ID: Michael Smith Foundation for Health Research Scholar Award
Funded by: Vanier Canada Graduate Scholarship
Funded by: Compute Canada
Funded by: RD-CONNECT
Funded by: European Union
Award ID: FP7-HEALTH-2012-INNOVATION-1 EU Grant No. 305444
Award Recipient
:
Nenad Blau