European lipodystrophy registry: background and structure

Autor: Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

Abstract Background Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each

Externí odkaz: https://doaj.org/article/ad91856d129d4197a99f9320d48d27e9

Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children

Autor: Catarina Leuzinger Dias, Inês Maio, José Ricardo Brandão, Edite Tomás, Esmeralda Martins, Ermelinda Santos Silva

Publikováno v: GE: Portuguese Journal of Gastroenterology, Pp 1-8 (2019)

Background: The prevalence of non-alcoholic fatty liver disease (NAFLD) affecting children and adolescents has increased dramatically in recent years. This increase is most probably related to the obesity pandemic and the high consumption of fructose

Externí odkaz: https://doaj.org/article/56a3f2f2d4b1468bb51d0e54d46421a0

Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center

Autor: Ermelinda Santos Silva, Alexandra Almeida, Simão Frutuoso, Esmeralda Martins, Maria João Valente, Alice Santos-Silva, Ana Isabel Lopes

Publikováno v: Frontiers in Pediatrics, Vol 8 (2020)

Introduction: In the last two decades there have been advances in the diagnosis and management of neonatal cholestasis, which may have changed its epidemiology, diagnostic accuracy, outcomes, and survival. Our goal was to characterize these changes o

Externí odkaz: https://doaj.org/article/7d2245c49a3c4a1f80f5a10535457e0c

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Autor: Shannon M, Vandriel, Li-Ting, Li, Huiyu, She, Jian-She, Wang, Melissa A, Gilbert, Irena, Jankowska, Piotr, Czubkowski, Dorota, Gliwicz-Miedzińska, Emmanuel M, Gonzales, Emmanuel, Jacquemin, Jérôme, Bouligand, Nancy B, Spinner, Kathleen M, Loomes, David A, Piccoli, Lorenzo, D'Antiga, Emanuele, Nicastro, Étienne, Sokal, Tanguy, Demaret, Noelle H, Ebel, Jeffrey A, Feinstein, Rima, Fawaz, Silvia, Nastasio, Florence, Lacaille, Dominique, Debray, Henrik, Arnell, Björn, Fischler, Susan, Siew, Michael, Stormon, Saul J, Karpen, Rene, Romero, Kyung Mo, Kim, Woo Yim, Baek, Winita, Hardikar, Sahana, Shankar, Amin J, Roberts, Helen M, Evans, M Kyle, Jensen, Marianne, Kavan, Shikha S, Sundaram, Alexander, Chaidez, Palaniswamy, Karthikeyan, Maria Camila, Sanchez, Maria Lorena, Cavalieri, Henkjan J, Verkade, Way Seah, Lee, James E, Squires, Christina, Hajinicolaou, Chatmanee, Lertudomphonwanit, Ryan T, Fischer, Catherine, Larson-Nath, Yael, Mozer-Glassberg, Cigdem, Arikan, Henry C, Lin, Jesus Quintero, Bernabeu, Seema, Alam, Deirdre A, Kelly, Elisa, Carvalho, Cristina Targa, Ferreira, Giuseppe, Indolfi, Ruben E, Quiros-Tejeira, Pinar, Bulut, Pier Luigi, Calvo, Zerrin, Önal, Pamela L, Valentino, Dev M, Desai, John, Eshun, Maria, Rogalidou, Antal, Dezsőfi, Sabina, Wiecek, Gabriella, Nebbia, Raquel Borges, Pinto, Victorien M, Wolters, María Legarda, Tamara, Andréanne N, Zizzo, Jennifer, Garcia, Kathleen, Schwarz, Marisa, Beretta, Thomas Damgaard, Sandahl, Carolina, Jimenez-Rivera, Nanda, Kerkar, Jernej, Brecelj, Quais, Mujawar, Nathalie, Rock, Cristina Molera, Busoms, Wikrom, Karnsakul, Eberhard, Lurz, Ermelinda, Santos-Silva, Niviann, Blondet, Luis, Bujanda, Uzma, Shah, Richard J, Thompson, Bettina E, Hansen, Binita M, Kamath

Publikováno v: Hepatology
Vandriel, S M, Li, L T, She, H, Wang, J S, Gilbert, M A, Jankowska, I, Czubkowski, P, Gliwicz-Miedzińska, D, Gonzales, E M, Jacquemin, E, Bouligand, J, Spinner, N B, Loomes, K M, Piccoli, D A, D'Antiga, L, Nicastro, E, Sokal, É, Demaret, T, Ebel, N H, Feinstein, J A, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, S J, Romero, R, Kim, K M, Baek, W Y, Hardikar, W, Shankar, S, Roberts, A J, Evans, H M, Jensen, M K, Kavan, M, Sundaram, S S, Chaidez, A, Karthikeyan, P, Sanchez, M C, Cavalieri, M L, Verkade, H J, Lee, W S, Squires, J E, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, R T, Sandahl, T D & The Global ALagille Alliance (GALA) Study Group 2023, ' Natural history of liver disease in a large international cohort of children with Alagille syndrome : Results from the GALA study ', Hepatology, vol. 77, no. 2 . https://doi.org/10.1002/hep.32761
Hepatology, Vol. 77, no. 2, p. 512-529 (2023)

Background and aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa081634c7928ab2481736e90c3d8a8
https://doi.org/10.1002/hep.32761

Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption?

Autor: Helena Moreira-Silva, Sandra Ferreira, Manuela Almeida, Isabel Gonçalves, Maria Augusta Cipriano, J. R. Vizcaíno, Ermelinda Santos-Silva, Esmeralda Gomes-Martins

Publikováno v: Frontiers in Pediatrics. 10

BackgroundThe worldwide increase in pediatric overweight and obesity, in parallel with the global increase in the consumption of sucrose and fructose, is associated with non-alcoholic fatty liver disease (NAFLD). Elevated branched-chain amino acids (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::50b2dd5e15ed582fe5b94e4497110586
https://doi.org/10.3389/fped.2022.933081