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DOI: Published online: June 30, 2021 Department of Anesthesiology and Pain Medicine, Dong-A University College of Medicine, Busan, Korea Corresponding Author: Tae Young Lee, Department of Anesthesiology and Pain Medicine, Dong-A University College of Medicine, 26, Daeshingongwon-ro, Seo-gu, Busan 49201, Korea, Tel: +82-51-240-5390 Fax: +82-51-247-7819 E-mail: [email protected] Received: June 24, 2020 Revised: October 3, 2020 Accepted: October 28, 2020 Copyright 2021 by Korean Association of Medical Journal Editors Articles published in Kosin Medical Journal are open-access, distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited

Thirty-six patients from 31 families with molecularly confirmed spondylodysplastic EDS due to B4GALT7 -deficiency with a total of 13 different variants have been reported so far (Table 2) [8, 12,13,14,15,16,17,18,19,20,21,22,23,24]

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What it is: Essential coenzyme for mitochondrial and DNA function How it works: Powers cellular energy (ATP) and supports brain and nerve regeneration Administration: SubQ injection Preparation: Add 5 mL bacteriostatic water to the vial

Dietary Deficiency: If your deficiency was purely due to diet (e.g., a vegan not supplementing) and youve since adjusted your diet or started regular oral supplements, you might eventually be able to space out injections more or even switch to oral maintenance, though this should always be carefully managed by your GP