Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Everardo Josué Díaz-López"'
Autor:
Antía Fernández-Pombo, Sofía Sánchez-Iglesias, Ana I. Castro-Pais, Maria José Ginzo-Villamayor, Silvia Cobelo-Gómez, Teresa Prado-Moraña, Everardo Josué Díaz-López, Felipe F. Casanueva, Lourdes Loidi, David Araújo-Vilar
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
The rarity of lipodystrophies implies that they are not well-known, leading to delays in diagnosis/misdiagnosis. The aim of this study was to assess the natural course and comorbidities of generalised and partial lipodystrophy in Spain to contribute
Externí odkaz:
https://doaj.org/article/8bee3dd1adf64e52944b759c400a14de
Autor:
Silvia Cobelo-Gómez, Sofía Sánchez-Iglesias, Alberto Rábano, Ana Senra, Pablo Aguiar, Noemí Gómez-Lado, Lara García-Varela, Iván Burgueño-García, Laura Lampón-Fernández, Antía Fernández-Pombo, Everardo Josué Díaz-López, Teresa Prado-Moraña, Beatriz San Millán, David Araújo-Vilar
Publikováno v:
Neurobiology of Disease, Vol 187, Iss , Pp 106300- (2023)
Celia's encephalopathy or progressive encephalopathy with/without lipodystrophy is a neurodegenerative disease with a fatal prognosis in childhood. It is generally caused by the c.985C > T variant in the BSCL2 gene, leading to the skipping of exon 7
Externí odkaz:
https://doaj.org/article/0cf182812fae411f97db2870888c7d1d
Autor:
Everardo Josué Díaz-López, Rocio Villar-Taibo, Gemma Rodriguez-Carnero, Antia Fernandez-Pombo, Roberto Garcia-Peino, Manuel Narciso Blanco-Freire, Alberto Pena-Dubra, Teresa Prado-Moraña, Irea- Fernández-Xove, Edurne Pérez-Béliz, Jose Manuel Cameselle-Teijeiro, Alvaro Hermida-Ameijeiras, Miguel Angel Martinez-Olmos
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Severe hypokalaemia causing rhabdomyolysis (RML) in primary aldosteronism (PA) is a rare entity, and only a few cases have been reported over the last four decades. This systematic review and case report aims to gather all published data regarding a
Externí odkaz:
https://doaj.org/article/e85169f7c3564f719ec1345160fc1e69
Autor:
Antia Fernandez-Pombo, Teresa Prado-Moraña, Everardo Josue Diaz-Lopez, Sofia Sanchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gomez, David Araujo-Vilar
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 23, p 7344 (2023)
Acquired generalised lipodystrophy (AGL) is a rare disorder characterised by the gradual loss of fat that tends to generalise over time, the origin of which is still not fully clarified. The aim of this study was to offer a detailed description of se
Externí odkaz:
https://doaj.org/article/da9a5bd88fc9488d84d91590f617c93d
Autor:
Antia Fernandez-Pombo, Everardo Josue Diaz-Lopez, Ana I. Castro, Sofia Sanchez-Iglesias, Silvia Cobelo-Gomez, Teresa Prado-Moraña, David Araujo-Vilar
Publikováno v:
Cells, Vol 12, Iss 5, p 725 (2023)
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of this review was to explore the published data regarding the clinical c
Externí odkaz:
https://doaj.org/article/a73ac91d5f184d9cb7d96d85e0be43a8