Search Results - "Bartolo, Gema Muñoz"

Heterozygous ABCB4 mutations in children with cholestatic liver disease by Gordo-Gilart, Raquel, Hierro, Loreto, Andueza, Sara, Muñoz-Bartolo, Gema, López, Carola, Díaz, Carmen, Jara, Paloma, Álvarez, Luis

“…Background & Aims Monoallelic defects in ABCB4, which encodes the canalicular floppase for phosphatidylcholine MDR3, have been encountered in association with…”
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Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report by Molera, Cristina, Sarishvili, Tinatin, Nascimento, Andrés, Rtskhiladze, Irakli, Muñoz Bartolo, Gema, Fernández Cebrián, Santiago, Valverde Fernández, Justo, Muñoz Cabello, Beatriz, Graham, Robert J, Miller, Weston, Sepulveda, Bryan, Kamath, Binita M, Meng, Hui, Lawlor, Michael W

“…X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress,…”
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Urea cycle disorders and indications for liver transplantation by García Vega, Marta, Andrade, José D, Morais, Ana, Frauca, Esteban, Muñoz Bartolo, Gema, Lledín, María D, Bergua, Ana, Hierro, Loreto

“…Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea. Current…”
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Current Practices on Diagnosis, Prevention and Treatment of Post-Transplant Lymphoproliferative Disorder in Pediatric Patients after Solid Organ Transplantation: Results of ERN TransplantChild Healthcare Working Group Survey by Baker, Alastair, Frauca Remacha, Esteban, Torres Canizales, Juan, Bravo-Gallego, Luz Yadira, Fitzpatrick, Emer, Alonso Melgar, Angel, Muñoz Bartolo, Gema, Garcia Guereta, Luis, Ramos Boluda, Esther, Mozo, Yasmina, Broniszczak, Dorota, Jarmużek, Wioletta, Kalicinski, Piotr, Maecker-Kolhoff, Britta, Carlens, Julia, Baumann, Ulrich, Roy, Charlotte, Chardot, Christophe, Benetti, Elisa, Cananzi, Mara, Calore, Elisabetta, Dello Strologo, Luca, Candusso, Manila, Lopes, Maria Francelina, Brito, Manuel João, Gonçalves, Cristina, Do Carmo, Carmen, Stephenne, Xavier, Wennberg, Lars, Stone, Rosário, Rascon, Jelena, Lindemans, Caroline, Turkiewicz, Dominik, Giraldi, Eugenia, Nicastro, Emanuele, D’Antiga, Lorenzo, Ackermann, Oanez, Jara Vega, Paloma

“…(1) Background: Post-transplant lymphoproliferative disease (PTLD) is a significant complication of solid organ transplantation (SOT). However, there is lack…”
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Efficacy and safety of valganciclovir in liver‐transplanted children infected with Epstein‐Barr virus by Hierro, Loreto, Díez‐Dorado, Ruth, Díaz, Carmen, De la Vega, Angela, Frauca, Esteban, Camarena, Carmen, Muñoz‐Bartolo, Gema, González de Zárate, Ana, López Santamaría, Manuel, Jara, Paloma

“…Epstein‐Barr virus (EBV) infection after liver transplantation (LT) is associated with increased risk of posttransplant lymphoproliferative disorder (PTLD)…”
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Genotype correlates with the natural history of severe bile salt export pump deficiency by van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre A., Nebbia, Gabriella, Arnell, Henrik, Björn Fischler, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton M.G., Hansen, Bettina E., Verkade, Henkjan J.

“…Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the…”
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Changes in humoral immune response after SARS‐CoV‐2 infection in liver transplant recipients compared to immunocompetent patients by Caballero‐Marcos, Aránzazu, Salcedo, Magdalena, Alonso‐Fernández, Roberto, Rodríguez‐Perálvarez, Manuel, Olmedo, María, Graus Morales, Javier, Cuervas‐Mons, Valentín, Cachero, Alba, Loinaz‐Segurola, Carmelo, Iñarrairaegui, Mercedes, Castells, Lluís, Pascual, Sonia, Vinaixa‐Aunés, Carmen, González‐Grande, Rocío, Otero, Alejandra, Tomé, Santiago, Tejedor‐Tejada, Javier, Álamo‐Martínez, José María, González‐Diéguez, Luisa, Nogueras‐Lopez, Flor, Blanco‐Fernández, Gerardo, Muñoz‐Bartolo, Gema, Bustamante, Francisco Javier, Fábrega, Emilio, Romero‐Cristóbal, Mario, Martin‐Mateos, Rosa, Del Rio‐Izquierdo, Julia, Arias‐Milla, Ana, Calatayud, Laura, Marcacuzco‐Quinto, Alberto A., Fernández‐Alonso, Víctor, Gómez‐Gavara, Concepción, Colmenero, Jordi, Muñoz, Patricia, Pons, José A.

“…The protective capacity and duration of humoral immunity after SARS‐CoV‐2 infection are not yet understood in solid organ transplant recipients. A prospective…”
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Presenting Features and Prognosis of Ischemic and Nonischemic Neonatal Liver Failure by Zozaya Nieto, Carlos, Fernández Caamaño, Beatriz, Muñoz Bartolo, Gema, Menéndez Suso, Juan J., Frauca Remacha, Esteban, Valverde Núñez, Eva

“…ABSTRACT Objectives: To describe the epidemiological features, clinical characteristics and outcomes of neonates diagnosed with liver failure, as well as…”
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Epstein-Barr virus-specific T-cell response in pediatric liver transplant recipients: a cross-sectional study by multiparametric flow cytometry by Cuesta-Martín de la Cámara, Ricardo, Torices-Pajares, Andrea, Miguel-Berenguel, Laura, Reche-Yebra, Keren, Frauca-Remacha, Esteban, Hierro-Llanillo, Loreto, Muñoz-Bartolo, Gema, Lledín-Barbacho, María Dolores, Gutiérrez-Arroyo, Almudena, Martínez-Feito, Ana, López-Granados, Eduardo, Sánchez-Zapardiel, Elena

“…Background Epstein-Barr virus (EBV) specific T-cell response measurement can help adjust immunosuppression in transplant patients with persistent infections…”
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Citrin deficiency: Early severe cases in a European country by Fernández Tomé, Lorena, Stark Aroeira, Luiz Guilherme, Muñoz Bartolo, Gema, de la Vega Bueno, Angela, Camarena Grande, Carmen, Frauca Remacha, Esteban, Lledín Barbancho, Dolores, Alós Díez, María, Quiles Blanco, María José, Guerra, Laura, López Santamaría, Manuel, Hierro Llanillo, Loreto

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Recurrence of Bile Salt Export Pump Deficiency after Liver Transplantation by Jara, Paloma, Hierro, Loreto, Martínez-Fernández, Pilar, Alvarez-Doforno, Rita, Yánez, Francisca, Diaz, María C, Camarena, Carmen, Vega, Angela De la, Frauca, Esteban, Muñoz-Bartolo, Gema, López-Santamaría, Manuel, Larrauri, Javier, Alvarez, Luis

“…Three children who received a liver transplant for bile salt export pump (BSEP) deficiency had recurrent disease accompanied by high titers of anti-BSEP…”
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Severe acute hepatitis and acute liver failure of unknown origin in children: a questionnaire-based study within 34 paediatric liver centres in 22 European countries and Israel, April 2022 by de Kleine, Ruben H, Lexmond, Willem S, Buescher, Gustav, Sturm, Ekkehard, Kelly, Deidre, Lohse, Ansgar W, Lenz, Dominic, Hørby Jørgensen, Marianne

“…To detect potential concern about severe acute hepatitis in children, we conducted a survey among 50 ERN RARE-LIVER centres. By 26 April 2022, 34 centres,…”
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Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency by Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer‐Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Luigi Calvo, Pier, Krebs‐Schmitt, Dorothee, Hartleif, Steffen, Woerd, Wendy L., Wang, Jian‐She, Li, Li‐ting, Durmaz, Özlem, Kerkar, Nanda, Hørby Jørgensen, Marianne, Fischer, Ryan, Jimenez‐Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noémie, Targa Ferreira, Cristina, Ordonez, Felipe, Wang, Heng, Sency, Valerie, Mo Kim, Kyung, Chen, Huey‐Ling, Carvalho, Elisa, Fabre, Alexandre, Quintero Bernabeu, Jesus, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Rao, Girish S., Horslen, Simon, Kamath, Binita M., Rogalidou, Maria, Karnsakul, Wikrom W., Hansen, Bettina, Verkade, Henkjan J.

“…Background and Aims Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or…”
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THU-289 - Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external controls from the NAPPED database by Hansen, Bettina, Valcheva, Velichka, Yu, Qifeng, van Wessel, Daan, Thompson, Richard, Gonzalès, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Kumar, Kishwer, Alkuraya, Fowzan, Sateesh, Meddirevula, Broering, Dieter Clemens, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Llanillo, Loreto Hierro, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy L., Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Önal, Zerrin, Felzen, Antonia, Nomden, Mark, Sonajalg, Jaak, Stein, Philip, Ni, Quanhong, Clemson, Christine, Mattsson, Jan, Verkade, Henkjan J.

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Efficacy and Safety of Peginterferon-α2b and Ribavirin Combination Therapy in Children With Chronic Hepatitis C Infection by Jara, Paloma, Hierro, Loreto, Vega, Angela de la, Díaz, Carmen, Camarena, Carmen, Frauca, Esteban, Muñoz-Bartolo, Gema, Díez-Dorado, Ruth, Guevara, Concepción Ladrón de, Larrauri, Javier, Rueda, Magdalena

“…BACKGROUND:Interferon (IFN)-α2b plus ribavirin is approved for treatment of hepatitis C in children; however, little is known about efficacy and tolerability…”
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FRI276 - The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium by Felzen, Antonia, van Wessel, Daan, Thompson, Richard, Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad Ali, Broering, Dieter Clemens, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, JBF, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Hierro, Loreto, Bartolo, Gema Muñoz, Glassberg, Yael Mozer, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy, Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Ruiz, Mathias, Targa, Cristina, Ferrero, Felipe Ordoñez, Wang, Heng, Kim, Kyungmo, Chen, Huey-Ling, Carvalho, Elisa, Hansen, Bettina, Verkade, Henkjan

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Heterozygous ABCB 4 mutations in children with cholestatic liver disease by Gordo‐Gilart, Raquel, Hierro, Loreto, Andueza, Sara, Muñoz‐Bartolo, Gema, López, Carola, Díaz, Carmen, Jara, Paloma, Álvarez, Luis

“…Abstract Background & Aims Monoallelic defects in ABCB 4 , which encodes the canalicular floppase for phosphatidylcholine MDR 3, have been encountered in…”
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PS-195-Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium by Wessel, Daan van, Thompson, Richard, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jankowska, Irena, Lipiński, Patryk, Czubkowski, Piotr, Gonzales, Emmanuel, Jacquemin, Emmanuel, Spraul, Anne, Sokal, Etienne, Shagrani, Mohammad Ali, Broering, Dieter Clemens, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, JBF, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Hierro, Loreto, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, Woerd, Wendy van der, Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Hansen, Bettina, Verkade, Henkjan

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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency by Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., Verkade, Henkjan J.

“…Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations…”
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Recurrence of Bile Salt Export Pump Deficiency after Liver TransplantationBrief Report by Jara, Paloma, Hierro, Loreto, Martínez-Fernández, Pilar, Alvarez-Doforno, Rita, Yánez, Francisca, Diaz, María C, Camarena, Carmen, Vega, Angela De la, Frauca, Esteban, Muñoz-Bartolo, Gema, López-Santamaría, Manuel, Larrauri, Javier, Alvarez, Luis

“…Severe bile salt export pump (BSEP) deficiency is a hereditary cholestatic condition that starts in infancy and leads to end-stage liver disease. Three…”
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