Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Everardo Josue Diaz-Lopez"'
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
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