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Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer-Simons syndrome).
Corvillo F, González-Sánchez L, López-Lera A, Arjona E, Ceccarini G, Santini F, Araújo-Vilar D, Brown RJ, Villarroya J, Villarroya F, Rodríguez de Córdoba S, Caballero T, Nozal P, López-Trascasa M. Corvillo F, et al. Int J Mol Sci. 2021 Jun 21;22(12):6608. doi: 10.3390/ijms22126608. Int J Mol Sci. 2021. PMID: 34205507 Free PMC article.
Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome.
Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D. Guillín-Amarelle C, et al. Endocrine. 2016 Nov;54(2):411-421. doi: 10.1007/s12020-016-1002-x. Epub 2016 Jul 30. Endocrine. 2016. PMID: 27473102
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T. Brown RJ, et al. J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511. doi: 10.1210/jc.2016-2466. Epub 2016 Oct 6. J Clin Endocrinol Metab. 2016. PMID: 27710244 Free PMC article. Review.
Bone mineral density in familial partial lipodystrophy.
Fernández-Pombo A, Ossandon-Otero JA, Guillín-Amarelle C, Sánchez-Iglesias S, Castro AI, González-Méndez B, Rodríguez-García S, Rodriguez-Cañete L, Casanueva FF, Araújo-Vilar D. Fernández-Pombo A, et al. Clin Endocrinol (Oxf). 2018 Jan;88(1):44-50. doi: 10.1111/cen.13504. Epub 2017 Nov 20. Clin Endocrinol (Oxf). 2018. PMID: 29078011
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S, Crocker M, O'Callaghan M, Darling A, García-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ, Araújo-Vilar D. Sánchez-Iglesias S, et al. Neurogenetics. 2019 May;20(2):73-82. doi: 10.1007/s10048-019-00574-5. Epub 2019 Mar 23. Neurogenetics. 2019. PMID: 30903322 Free PMC article.
89 results