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Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.
J Pediatr Endocrinol Metab. 2022 Apr 11;35(7):946-952. doi: 10.1515/jpem-2022-0022. Print 2022 Jul 26.
J Pediatr Endocrinol Metab. 2022.
PMID: 35405042
Additionally, she was suffering from malignant cardiac arrhythmia, myopathy, and hyperCKemia. In light of these clinical findings, she was diagnosed with CGL due to a rare, novel variant in the PTRF gene, and was started on metreleptin, a synthetic analog of human leptin. …
Additionally, she was suffering from malignant cardiac arrhythmia, myopathy, and hyperCKemia. In light of these clinical findings, sh …
Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4.
Zaffina S, Piano Mortari E, Di Prinzio RR, Cappa M, Novelli A, Agolini E, Raponi M, Dallapiccola B, Locatelli F, Perno CF, Carsetti R.
Zaffina S, et al.
Front Immunol. 2022 Apr 6;13:869042. doi: 10.3389/fimmu.2022.869042. eCollection 2022.
Front Immunol. 2022.
PMID: 35464479
Free PMC article.
A 48-year-old patient affected with congenital generalized lipodystrophy type 4 failed to respond to two doses of the BNT162b2 vaccine, consisting of lipid nanoparticle encapsulated mRNA. ...
A 48-year-old patient affected with congenital generalized lipodystrophy type 4 failed to respond to two …
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