Search Results - "Guillín Amarelle, Cristina"

Lipodystrophic laminopathies: Diagnostic clues by Guillín-Amarelle, Cristina, Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Araújo-Vilar, David

“…The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate…”
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Severe hypocupremia and familial amyloid polyneuropathy by Fernández López, María Teresa, Guillín Amarelle, Cristina, Mato Mato, José Antonio

“…Introduction: we report a patient with transthyretin familial amyloid polyneuropathy (TTR-FAP) and severe hypocupremia. Case report: a 79-year-old male with…”
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Bone mineral density in familial partial lipodystrophy by Fernández‐Pombo, Antía, Ossandon‐Otero, Javier A., Guillín‐Amarelle, Cristina, Sánchez‐Iglesias, Sofía, Castro, Ana I., González‐Méndez, Blanca, Rodríguez‐García, Silvia, Rodriguez‐Cañete, Leticia, Casanueva, Felipe F., Araújo‐Vilar, David

“…Summary Objective Type 1 and type 2 familial partial lipodystrophies (FPLD) are characterized by the loss or increase in subcutaneous fat in certain body…”
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Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience by Araujo-Vilar, David, Sánchez-Iglesias, Sofía, Guillín-Amarelle, Cristina, Castro, Ana, Lage, Mary, Pazos, Marcos, Rial, José Manuel, Blasco, Javier, Guillén-Navarro, Encarna, Domingo-Jiménez, Rosario, del Campo, María Ruiz, González-Méndez, Blanca, Casanueva, Felipe F.

“…Lipodystrophies are a group of diseases mainly characterized by a loss of adipose tissue and frequently associated with insulin resistance,…”
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Criteria for diagnosis and postoperative control of acromegaly, and screening and management of its comorbidities: Expert consensus by Bernabeu, Ignacio, Aller, Javier, Álvarez-Escolá, Cristina, Fajardo-Montañana, Carmen, Gálvez-Moreno, Ángeles, Guillín-Amarelle, Cristina, Sesmilo, Gemma

“…Acromegaly is a rare disease with many comorbidities that impair quality of life and limit survival. There are discrepancies in various clinical guidelines…”
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Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis by Sánchez-Iglesias, Sofía, Unruh-Pinheiro, Alexander, Guillín-Amarelle, Cristina, González-Méndez, Blanca, Ruiz-Riquelme, Alejandro, Rodríguez-Cañete, Blanca Leticia, Rodríguez-García, Silvia, Guillén-Navarro, Encarnación, Domingo-Jiménez, Rosario, Araújo-Vilar, David

“…PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the…”
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Inflammatory myopathy in the context of an unusual overlapping laminopathy by Guillín-Amarelle, Cristina, Sánchez-Iglesias, Sofía, Mera, Antonio, Pintos, Elena, Castro-Pais, Ana, Rodríguez-Cañete, Leticia, Pardo, Julio, Casanueva, Felipe F, Araújo-Vilar, David

“…Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA…”
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Hipocupremia severa y polineuropatía amiloidótica familiar por transtiretina by Fernández López, María Teresa, Guillín Amarelle, Cristina, Mato Mato, José Antonio

“…Resumen Introducción: presentamos el caso de un paciente con antecedentes de polineuropatía amiloidótica familiar por transtiretina (TTR-FAP) diagnosticado de…”
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Inmunonutrición, evidencias y experiencias by Tejera Pérez, Cristina, Guillín Amarelle, Cristina, Rodríguez Novo, Nazareth, Lugo Rodríguez, Gloria, Mantiñán Gil, Beatriz, Palmeiro Carballeira, Regina, Pita Gutiérrez, Francisco, Argüeso Armesto, Rosa, Cantón Blanco, Ana, Botana López, Manuel Antonio, Fernández López, María Teresa, Muñoz Leira, Virginia, Rodeiro Marta, Santiago Enrique, Martínez Olmos, Miguel Ángel

“…Resumen La inmunonutrición es una ciencia que engloba aspectos relacionados con la nutrición, la inmunidad, la infección, la inflamación y el daño tisular. Las…”
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Acantosis nigricans in severe insulin resistance syndromes by Araújo-Vilar, David, Barreiro, Jesús, Sánchez-Iglesias, Sofía, Guillín-Amarelle, Cristina

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Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies by Sánchez-Iglesias, Sofía, Fernández-Liste, Alberto, Guillín-Amarelle, Cristina, Rábano, Alberto, Rodriguez-Cañete, Leticia, González-Méndez, Blanca, Fernández-Pombo, Antía, Senra, Ana, Araújo-Vilar, David

“…[Display omitted] •BSCL2 expression in human brains decreases with age.•BSCL2 expression correlates with oxidative stress protection and peroxisome biogenesis…”
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Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome by Guillín-Amarelle, Cristina, Sánchez-Iglesias, Sofía, Castro-Pais, Ana, Rodriguez-Cañete, Leticia, Ordóñez-Mayán, Lucía, Pazos, Marcos, González-Méndez, Blanca, Rodríguez-García, Silvia, Casanueva, Felipe F., Fernández-Marmiesse, Ana, Araújo-Vilar, David

“…Familial partial lipodystrophy are Mendelian disorders involving abnormal body fat distribution and insulin resistance. The current classification includes the…”
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Immunonutrition, evidence and experiences by Tejera Pérez, Cristina, Guillín Amarelle, Cristina, Rodríguez Novo, Nazareth, Lugo Rodríguez, Gloria, Mantiñán Gil, Beatriz, Palmeiro Carballeira, Regina, Pita Gutiérrez, Francisco, Argüeso Armesto, Rosa, Cantón Blanco, Ana, Botana López, Manuel Antonio, Fernández López, María Teresa, Muñoz Leira, Virginia, Rodeiro Marta, Santiago, Martínez Olmos, Miguel Ángel

“…Immunonutrition is a science that encompasses aspects related to nutrition, immunity, infection, inflammation and tissue damage. Immunomodulatory formulas have…”
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Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy by Araújo-Vilar, David, Domingo-Jiménez, Rosario, Ruibal, Álvaro, Aguiar, Pablo, Ibáñez-Micó, Salvador, Garrido-Pumar, Miguel, Martínez-Olmos, Miguel Ángel, López-Soler, Concepción, Guillín-Amarelle, Cristina, González-Rodríguez, María, Rodríguez-Núñez, Antonio, Álvarez-Escudero, Julián, Liñares-Paz, Mercedes, González-Méndez, Blanca, Rodríguez-García, Silvia, Sánchez-Iglesias, Sofía

“…Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy, PELD) is a recessive neurodegenerative disease that is fatal in childhood. It is…”
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Severe hypocupremia and familial amyloid polyneuropathy: à propos of a case by Fernández López, María Teresa, Guillín Amarelle, Cristina, Mato Mato, José Antonio

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Criteria for diagnosis and postoperative control of acromegaly, and screening and management of its comorbidities: Expert consensus by Bernabeu, Ignacio, Aller, Javier, Álvarez-Escolá, Cristina, Fajardo-Montañana, Carmen, Gálvez-Moreno, Ángeles, Guillín-Amarelle, Cristina, Sesmilo, Gemma

“…Abstract Acromegaly is a rare disease with many comorbidities that impair quality of life and limit survival. There are discrepancies in various clinical…”
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Uncommon lipodystrophic syndromes by Guillín-Amarelle, Cristina, Sánchez-Iglesias, Sofía, Araújo-Vilar, David

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Acantosis nigricans en los síndromes de resistencia grave a la insulina by Araújo-Vilar, David, Barreiro, Jesús, Sánchez-Iglesias, Sofía, Guillín-Amarelle, Cristina

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Uncommon lipodystrophic syndromes by Guillín-Amarelle, Cristina, Sánchez-Iglesias, Sofía, Araújo-Vilar, David

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