{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:47:46Z","timestamp":1756460866486,"version":"3.40.5"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0284_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Glycogen storage disease type V is caused by the mutations in muscle glycogen phosphorylase gene. This is the first report which DL-3-hydroxybutyric acid was used in combination with modified Atkins diet for the treatment of a patient with glycogen storage disease type V and quadriceps femoris shear wave elastography was performed to evaluate the treatment efficacy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0284_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 13-year-old girl was referred with fatigue and muscle cramps with exercise and there were no pathological findings in physical examination. Creatine kinase levels with 442\u202fU\/L. No phosphorylase enzyme activity was detected in muscle biopsy, a homozygous c.1A&gt;G (p.M1V) pathogenic mutation was found in PYGM gene. She was started on DL-3-hydroxybutyric acid and modified Atkins diet at age 16. Her walking and stair climbing capacity increased, the need for rest during exercise decreased. The stiffness of the quadriceps femoris exhibited a reduction.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0284_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>DL-3-hydroxybutyric acid and modified Atkins diet may provide an alternative fuel and shear wave elastography may be useful in demonstrating treatment efficacy. More clinical and pre-clinical studies are obviously needed to reach more definite conclusions.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0284","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T08:40:32Z","timestamp":1722847232000},"page":"820-824","source":"Crossref","is-referenced-by-count":1,"title":["New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography"],"prefix":"10.1515","volume":"37","author":[{"given":"Ekin","family":"\u00d6zsayd\u0131 Akta\u015fo\u011flu","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u015fe","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1561-7949","authenticated-orcid":false,"given":"Merve","family":"Emecen \u015eanl\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0561-2060","authenticated-orcid":false,"given":"Asl\u0131","family":"\u0130nci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emine","family":"Akta\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130smail","family":"Akdulum","sequence":"additional","affiliation":[{"name":"Department of Radiology, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nezih","family":"Yayl\u0131","sequence":"additional","affiliation":[{"name":"Department of Radiology, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130lyas","family":"Okur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih S\u00fcheyl","family":"Ezg\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leyla","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Faculty of Medicine , Gazi University , Yenimahalle , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,8,6]]},"reference":[{"key":"2024090408434233574_j_jpem-2024-0284_ref_001","doi-asserted-by":"crossref","unstructured":"Quinlivan, R, Buckley, J, James, M, Twist, A, Ball, S, Duno, M, et al.. 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