Funding for this research was provided by:
the National Human Genome Research Institute of the National Institutes of Health (NIH/NHGRI) Center of Excellence in Genomic Science (CEGS) Initiative (HG004233)
General University Hospital in Prague (RVO-VFN 64165)
Charles University (Progres Q26)
One Brave Idea
Canada Excellence Research Chairs, Government of Canada
Canadian Institutes of Health Research
Canada Foundation for Innovation (RVO-VFN 64165)
Czech Health Research Council (NV19-01-00307)
Received: 9 June 2019
Accepted: 10 January 2020
First Online: 30 January 2020
Ethics approval and consent to participate
: All patients have been followed in the Metabolic Center in the Department of Pediatrics and Adolescent Medicine, the General University Hospital in Prague. The clinical, biochemical, and molecular genetic data were obtained during routine care, and patients gave their informed consent for DNA analysis. Plasma CBS activity was measured within a research project after obtaining patient informed consent, which included also a consent for the publication of clinical, enzymatic, and molecular genetic data (with approval of the Ethics Committee 1194/13 S-IV). All data collection conformed to the principles of the Helsinki Declaration.
: Patients consented for the publication of data at the time of enrollment for plasma CBS study (approval given by the Ethics Committee 1194/13 S-IV).
: VK received partial reimbursement for mouse tissue analyses to Charles University First Faculty of Medicine from Orphan Technologies, reimbursement for organizing the RRD course to Charles University First Faculty of Medicine from the Recordati Rare Disease Foundation, and travel support for conferences from Nutricia and HCU Australia. FPR holds shares in Ranomics, Inc. and is an investor and advisor for SeqWell, Inc. (each offering services that are potentially useful for variant effect mapping), and has accepted conference travel support from Illumina, Inc. The remaining authors declare that they have no competing interests.