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COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: ragni l. Eur J Hum Genet. 2024 Aug;32(8):938-946. doi: 10.1038/s41431-024-01615-w. Epub 2024 May 3. Eur J Hum Genet. 2024. PMID: 38702428 Free PMC article.
Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
Kaski JP, Norrish G, Gimeno Blanes JR, Charron P, Elliott P, Tavazzi L, Tendera M, Laroche C, Maggioni AP, Baban A, Khraiche D, Ziolkowska L, Limongelli G, Ojala T, Gorenflo M, Anastasakis A, Mostafa S, Caforio ALP; EORP Paediatric Cardiomyopathy Registry Investigators. Kaski JP, et al. Eur Heart J. 2024 Apr 21;45(16):1443-1454. doi: 10.1093/eurheartj/ehae109. Eur Heart J. 2024. PMID: 38427064 Free PMC article.
Focus on Paediatric Restrictive Cardiomyopathy: Frequently Asked Questions.
Zampieri M, Di Filippo C, Zocchi C, Fico V, Golinelli C, Spaziani G, Calabri G, Bennati E, Girolami F, Marchi A, Passantino S, Porcedda G, Capponi G, Gozzini A, Olivotto I, Ragni L, Favilli S. Zampieri M, et al. Among authors: ragni l. Diagnostics (Basel). 2023 Dec 14;13(24):3666. doi: 10.3390/diagnostics13243666. Diagnostics (Basel). 2023. PMID: 38132249 Free PMC article. Review.
138 results