Search Results - "Díaz‐López, Everardo Josué"

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries by Fernández‐Pombo, Antía, Yildirim Simsir, Ilgin, Sánchez‐Iglesias, Sofía, Ozen, Samim, Castro, Ana I., Atik, Tahir, Loidi, Lourdes, Onay, Huseyin, Prado‐Moraña, Teresa, Adiyaman, Cem, Díaz‐López, Everardo Josué, Altay, Canan, Ginzo‐Villamayor, Maria José, Akinci, Baris, Araújo‐Vilar, David

“…Aim To assess the disease burden of familial partial lipodystrophy (FPLD) caused by LMNA (FPLD2) and PPARG (FPLD3) variants to augment the knowledge of these…”
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Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes by Díaz-López, Everardo Josué, Sánchez-Iglesias, Sofía, Castro, Ana I, Cobelo-Gómez, Silvia, Prado-Moraña, Teresa, Araújo-Vilar, David, Fernandez-Pombo, Antia

“…Lipodystrophic laminopathies are a group of ultra-rare disorders characterised by the presence of pathogenic variants in the same gene ( ) and other related…”
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A murine model of BSCL2-associated Celia's encephalopathy by Cobelo-Gómez, Silvia, Sánchez-Iglesias, Sofía, Rábano, Alberto, Senra, Ana, Aguiar, Pablo, Gómez-Lado, Noemí, García-Varela, Lara, Burgueño-García, Iván, Lampón-Fernández, Laura, Fernández-Pombo, Antía, Díaz-López, Everardo Josué, Prado-Moraña, Teresa, San Millán, Beatriz, Araújo-Vilar, David

“…Celia's encephalopathy or progressive encephalopathy with/without lipodystrophy is a neurodegenerative disease with a fatal prognosis in childhood. It is…”
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Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain by Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Castro-Pais, Ana I, Ginzo-Villamayor, Maria José, Cobelo-Gómez, Silvia, Prado-Moraña, Teresa, Díaz-López, Everardo Josué, Casanueva, Felipe F, Loidi, Lourdes, Araújo-Vilar, David

“…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…”
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Should we suspect primary aldosteronism in patients with hypokalaemic rhabdomyolysis? A systematic review by Díaz-López, Everardo Josué, Villar-Taibo, Rocio, Rodriguez-Carnero, Gemma, Fernandez-Pombo, Antia, Garcia-Peino, Roberto, Blanco-Freire, Manuel Narciso, Pena-Dubra, Alberto, Prado-Moraña, Teresa, Fernández-Xove, Irea, Pérez-Béliz, Edurne, Cameselle-Teijeiro, Jose Manuel, Hermida-Ameijeiras, Alvaro, Martinez-Olmos, Miguel Angel

“…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…”
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Clinical Spectrum of LMNA -Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review by Fernandez-Pombo, Antia, Diaz-Lopez, Everardo Josue, Castro, Ana I, Sanchez-Iglesias, Sofia, Cobelo-Gomez, Silvia, Prado-Moraña, Teresa, Araujo-Vilar, David

“…Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the gene. Its rarity implies that it is not…”
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Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study by Fernandez-Pombo, Antia, Prado-Moraña, Teresa, Diaz-Lopez, Everardo Josue, Sanchez-Iglesias, Sofia, Castro, Ana I, Cobelo-Gomez, Silvia, Araujo-Vilar, David

“…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…”
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Clinical Spectrum of ILMNA/I-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review by Fernandez-Pombo, Antia, Diaz-Lopez, Everardo Josue, Castro, Ana I, Sanchez-Iglesias, Sofia, Cobelo-Gomez, Silvia, Prado-Moraña, Teresa, Araujo-Vilar, David

“…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…”
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