Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)

Autor: Ruqaiah Altassan, Dimpna C. Albert‐Brotons, Mohammad Alowain, Zohair Al‐Halees, Jaak Jaeken, Eva Morava

Publikováno v: JIMD Reports, Vol 64, Iss 2, Pp 123-128 (2023)

Abstract We report successful heart transplantation in a phosphoglucomutase 1 deficient (PGM1‐CDG) patient. She presented with facial dysmorphism, bifid uvula and structural heart defects. Newborn screening was positive for classic galactosemia. Th

Externí odkaz: https://doaj.org/article/8bded4de229c4051a05578a5e5fa9b65

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency ( PGM1‐CDG )

Autor: Ruqaiah Altassan, Dimpna C. Albert‐Brotons, Mohammad Alowain, Zohair Al‐Halees, Jaak Jaeken, Eva Morava

Publikováno v: JIMD Reports. 64:123-128

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::35401530d4eda12b38e99af372cab856
https://doi.org/10.1002/jmd2.12350

Association of Myocardial Muscle Non-Compaction and Multiple Ventricular Septal Defects by Echocardiography

Autor: Fadel AlFadley, Naheel Abdelbaky, Mohammed Alhabdan, Ziad Issa, Abdulai Yansaneh, Zuhair N. Al-Hassnan, Dimpna C. Albert-Brotons

Publikováno v: Pediatric Cardiology. 43:1373-1378

The aim of this study is to examine the possible high association between multiple ventricular septal defect (mVSDs) and noncompaction cardiomyopathy (NCM) as same embryological origin, and the effect of depressed ventricular function in NCM cases du

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::181d1893c45f4366537bba5ba6bdc946
https://doi.org/10.1007/s00246-022-02861-9

Registro Español de Trasplante Cardiaco. XXXI Informe Oficial de la Asociación de Insuficiencia Cardiaca de la Sociedad Española de Cardiología

Autor: Francisco González-Vilchez, Luis Almenar-Bonet, María G. Crespo-Leiro, Manuel Gómez-Bueno, José González-Costello, Félix Pérez-Villa, Juan Delgado-Jiménez, José María Arizón del Prado, José Manuel Sobrino-Márquez, Iago Sousa Casasnovas, Javier Segovia-Cubero, Francisco Hernández-Pérez, Soledad Martínez Penades, Mónica Cebrián Pinar, Raquel López Vilella, Ignacio Sánchez-Lázaro, Luis Martínez-Dolz, María J. Paniagua-Martín, Eduardo Barge-Caballero, Gonzalo Barge-Caballero, David Couto-Mallón, Amador López Granados, Carmen Segura Saintgerons, Víctor Menjíbar Pareja, Francisco Carrasco Ávalos, Manuel Cobo, Miguel Llano-Cardenal, José A. Vázquez de Prada, Francisco Nistal Herrera, Zorba Blázquez, María Jesús Valero, Carlos Ortiz, Eduardo Zataraín, Adolfo Villa, Paula Navas, Manuel Martínez-Sellés, M. Dolores García Cosío, Laura Morán Fernández, Pedro Caravaca, Vicens Brossa Loidi, Eulàlia Roig Minguell, Sonia Mirabet Pérez, Laura López López, Isabel Zegrí, Diego Rangel Sousa, Nicolas Manito Lorite, Carles Díez Lopez, Josep Roca Elias, Elena García Romero, Gregorio Rábago Juan-Aracil, María Ángeles Castel, Marta Farrero, José Luis Lambert Rodríguez, Beatriz Díaz Molina, María José Bernardo Rodríguez, Cristina Fidalgo Muñiz, Manuela Camino López, Juan Miguel Gil Jaurena, Nuria Gil Villanueva, Iris Garrido-Bravo, Domingo A. Pascual Figal, Francisco J. Pastor Pérez, Teresa Blasco-Peiró, Ana Portoles Ocampo, Marisa Sanz Julve, Luis de la Fuente Galán, Javier Tobar Ruiz, Amada Recio Platero, Luis García-Guereta Silva, Álvaro González Rocafort, Carlos Labradero de Lera, Luz Polo López, Ferrán Gran Ipiña, Dimpna C. Albert Brotons, Raúl Abella Antón, Antonio García Quintana, María del Val Groba Marco

Publikováno v: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname

Introducción y objetivos Se presentan las características clínicas y los resultados de los trasplantes cardiacos realizados en España con la actualización correspondiente a 2019. Métodos Se describen las características clínicas y los resulta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d518f50cb6bd22fbcdce634153584df4
https://doi.org/10.1016/j.recesp.2020.06.024

Paediatric and adult congenital cardiology education and training in Europe

Autor: Colin J. McMahon, Ruth Heying, Werner Budts, Anna Cavigelli-Brunner, Maria Shkolnikova, Ina Michel-Behnke, Rainer Kozlik-Feldmann, Håkan Wåhlander, Daniel DeWolf, Sylvie Difilippo, Laslo Kornyei, Maria Giovanna Russo, Anna Kaneva-Nencheva, Senka Mesihovic-Dinarevic, Samo Vesel, Gylfi Oskarsson, George Papadopoulos, Andreas C. Petropoulos, Berna Saylan Cevik, Antonis Jossif, Gabriela Doros, Thomas Krusensjerna-Hafstrom, Joanna Dangel, Otto Rahkonen, Dimpna C. Albert-Brotons, Silvia Alvares, Henrik Brun, Jan Janousek, Olli Pitkänen-Argillander, Inga Voges, Inguna Lubaua, Skaiste Sendzikaite, Alan G. Magee, Mark J. Rhodes, Nico A. Blom, Frances Bu’Lock, Katarina Hanseus, Ornella Milanesi

Publikováno v: McMahon, C J, Heying, R, Budts, W, Cavigelli-Brunner, A, Shkolnikova, M, Michel-Behnke, I, Kozlik-Feldmann, R, Wåhlander, H K, Dewolf, D, Difilippo, S, Kornyei, L, Russo, M G, Kaneva-Nencheva, A, Mesihovic-Dinarevic, S, Vesel, S, Oskarsson, G, Papadopoulos, G, Petropoulos, A C, Cevik, B S, Jossif, A, Doros, G, Krusensjerna-Hafstrom, T, Dangel, J, Rahkonen, O, Albert-Brotons, D C, Alvares, S, Brun, H, Janousek, J, Pitkänen-Argillander, O, Voges, I, Lubaua, I, Sendzikaite, S, Magee, A G, Rhodes, M J, Blom, N A, Bu'lock, F, Hanseus, K & Milanesi, O 2022, ' Paediatric and adult congenital cardiology education and training in Europe ', Cardiology in the Young . https://doi.org/10.1017/S104795112100528X
Cardiology in the young. Cambridge University Press
Cardiology in the Young. Cambridge University Press
Cardiology in the Young, 32(12), 1966-1983. Cambridge University Press
Cardiology in the young, Cambridge : Cambridge University Press, 2022, vol. 32, no. 12, p. 1966-1983
CARDIOLOGY IN THE YOUNG
Cardiology in the Young. CAMBRIDGE UNIV PRESS
Cardiology in the Young

Background:Limited data exist on training of European paediatric and adult congenital cardiologists.Methods:A structured and approved questionnaire was circulated to national delegates of Association for European Paediatric and Congenital Cardiology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05076b433474410194324c8fae8d7c52
http://hdl.handle.net/11591/477355