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Page 288 Jafri et al. J Transl Genet Genom 2022;6:281-9 https://dx.doi.org/10.20517/jtgg.2021.63

prevent the associated complications for those affected by this rare disease.

DECLARATIONS
Acknowledgements
The authors wish to thank the patient and her family for their participation in this study.

Authors’ contributions
Provided clinical consult, summary, and interpretation: Adams DR, Colleen Evans, Evans C, Bulas D,
Weinerman SA, Vezina G, Collins MT, Toro C
Collected and interpreted the data: Jafri SM, Burke EA, Evans C, Pan K, Collins MT, Markello TC
Wrote the manuscript: Jafri SM, Burke EA
Supervised the project: Adams DR, Collins MT, Gahl WA
All authors reviewed and revised the manuscript and approved the submission.

Availability of data and materials
Not applicable.

Financial support and sponsorship
This work was supported by the Intramural Research Programs of the National Human Genome Research
Institute and and the National Institutse of Dental and Craniofacial Research and the Common Fund of the
NIH Office of the Director of the National Institutes of Health.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
The study participant was evaluated by the UDP under the IRB approved protocol 76-HG-0238, “Diagnosis
and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic Disorders” (NCT00369421)
[20]
following informed and written consent .
Consent for publication
A written informed consent for publication was obtained.

Copyright
© The Author(s) 2022.

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