Journal ID (nlm-ta): J Inherit Metab Dis
Journal ID (iso-abbrev): J. Inherit. Metab. Dis
Journal ID (doi): 10.1002/(ISSN)1573-2665
Journal ID (publisher-id): JIMD
Title:
Journal of Inherited Metabolic Disease
Publisher:
John Wiley & Sons, Inc.
(Hoboken, USA
)
ISSN
(Print):
0141-8955
ISSN
(Electronic):
1573-2665
Publication date
(Electronic):
13
August
2019
Publication date
(Print):
March
2020
Volume: 43
Issue: 2
(
doiID:
10.1002/jimd.v43.2
)
Pages: 297-308
Affiliations
[
1
]
Department of Neuropediatrics and Muscle Disorders
Medical Center – University of Freiburg, Faculty of Medicine
Breisgau
Germany
[
2
]
Department of General Pediatrics
Adolescent Medicine and Neonatology, Medical Center – University of Freiburg, Faculty
of Medicine
Breisgau
Germany
[
3
]
Wellcome Centre for Mitochondrial Research
Institute of Genetic Medicine, Newcastle University
Newcastle upon Tyne
UK
[
4
]
Biomedical Research Department
Leibniz‐Institut für Analytische Wissenschaften – ISAS – e.V
Dortmund
Germany
[
5
]
Wellcome Centre for Mitochondrial Research
Institute of Neuroscience, Newcastle University
Newcastle upon Tyne
UK
[
6
]
Institute of Clinical Genetics and Tumor Genetics
Bonn
Germany
[
7
]
Kid's Neuroscience Centre, Children's Hospital at Westmead
Sydney
New South Wales
Australia
[
8
]
Discipline of Child and Adolescent Health
The University of Sydney
Sydney
New South Wales
Australia
[
9
]
Cardiology
The Children's Hospital at Westmead
Sydney
New South Wales
Australia
[
10
]
John Walton Muscular Dystrophy Research Centre
Institute of Genetic Medicine, Newcastle University
Newcastle upon Tyne
UK
[
11
]
Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology
and Biobank
Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona
Barcelona
Spain
[
12
]
Birmingham Women's and Children's NHS Foundation Trust
Birmingham
UK
[
13
]
Department of Inherited Disease
St Thomas Hospital
London
UK
[
14
]
South West Regional Metabolic Department
Bristol Royal Hospital for Children
Bristol
UK
[
15
]
Center for Mendelian Genomics and Program in Medical and Population Genetics
Broad Institute of MIT and Harvard
Cambridge
Massachusetts
[
16
]
Analytic and Translational Genetics Unit
Massachusetts General Hospital
Boston
Massachusetts
[
17
]
Centro Andaluz de Biología del Desarrollo
Uníversidad Pablo de Olavide‐CSIC‐JA and CIBERER, Instituto de Salud Carlos III
Madrid
Spain
[
18
]
Secció d'Errors Congènits del Metabolisme – IBC
Servei de Bioquímica I Genètìca Molecular, Hospital Clínìc, IDIBAPS, CIBERER
Barcelona
Spain
[
19
]
Neurometabolic Diseases Laboratory, Institut d'Investìgacío Biomedíca de Bellvitge
(IDIBELL), and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto
de Salud Carlos III
Madrid
Spain
[
20
]
Catalan Institution of Research and Advanced Studies (ICREA)
Barcelona
Spain
[
21
]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Ottawa
Ontario
Canada
[
22
]
Division of Neurology, Department of Medicine
The Ottawa Hospital
Ottawa
Ontario
Canada
[
23
]
Pediatric Neurology
University Children's Hospital, University of Duisburg‐Essen, Faculty of Medicine
Essen
Germany
[
24
]
Department of Clinical Neurosciences
University of Cambridge
Cambridge
UK
Author notes
[*]
[*
]
Correspondence
Rita Horvath, Department of Clinical Neurosciences, University of Cambridge, John
Van Geest Cambridge Centre for Brain Repair, Robinson Way, Cambridge CB2 0PY, UK.
Email:
rh732@
123456medschl.cam.ac.uk
Article
Publisher ID:
JIMD12156
DOI: 10.1002/jimd.12156
PMC ID: 7078914
PubMed ID: 31339582
SO-VID: 257c5c97-8416-44fc-90dc-9ebd6b709bab
Copyright © © 2019 The Authors.
Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM
License:
This is an open access article under the terms of the
http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided
the original work is properly cited.
Funded by: Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR)
Award ID: 2014: SGR 393
Funded by: Association Française contre les Myopathies (FR) , open-funder-registry 10.13039/100013465;
Award ID: 21644
Funded by: CERCA Programme/ Generalitat de Catalunya, the Hesperia Foundation, the Secretariat
for Universities and Research of the Ministry of Business and Knowledge of the Government
of Catalonia , open-funder-registry 10.13039/501100002809;
Award ID: 2017SGR1206
Funded by: European Research Council , open-funder-registry 10.13039/501100000781;
Award ID: 309548
Funded by: FEuropean Union Seventh Framework Programme
Award ID: FP7/2007‐2013
Funded by: Instituto de la Marató de TV3
Award ID: 345/C/2014rm Care (CA)
Funded by: Instituto de Salud Carlos III , open-funder-registry 10.13039/501100004587;
Award ID: PI17‐01286
Award ID: PI17/00109
Award ID: PI16/00579
Award ID: PI16/01048
Award ID: PI14/00581
Award ID: CP09/00011
Funded by: Medical Research Council , open-funder-registry 10.13039/501100007155;
Award ID: MR/N025431/1
Funded by: Mitochondrial Disease Patient Cohort (UK) , open-funder-registry 10.13039/100007472;
Award ID: G0800674
Funded by: National Institute for Health Research (NIHR) doctoral fellowship
Award ID: NIHR‐HCS‐D12‐03‐04
Funded by: Newton Fund , open-funder-registry 10.13039/100010897;
Award ID: MR/N027302/1
Funded by: Wellcome Centre for Mitochondrial Research
Award ID: 203105/Z/16/Z
Funded by: Wellcome Investigator
Award ID: 109915/Z/15/Z
Funded by: Wellcome Trust Pathfinder Scheme
Award ID: 201064/Z/16/Z