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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants
| Title: | 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants | Authors: | Bjelica, Milena; Stojadinovic, Aleksandra; Knezevic-Pogancev, Marija F; Koprivsek, Katarina M; Sass, Jorn Oliver; Gruenert, Sarah C; Wuensche, Falko; Yamamoto, Raina | Issue Date: | 2025 | Publication: | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | ISSN: | 0334-018X Journal of Pediatric Endocrinology and Metabolism Search Idenfier |
Type: | Article | DOI: | 10.1515/jpem-2025-0156 | WoS-ID: | 001508184600001 | Scopus-ID: | 2-s2.0-105008342601 | URI: | https://enauka.gov.rs/handle/123456789/986672 | Project: | MVZ Dr. Eberhard & Partner Dortmund [514177501, 528562393-FIP26, 538669957] Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) |
Metadata source: | (Preuzeto iz Nasi u WoS) | M-category: | 22M22 |
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