Search Results - "Santos Silva, Ermelinda"

Mutations in NOTCH1 Cause Adams-Oliver Syndrome by Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.

“…Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key…”
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Neonatal cholestasis : development of a diagnostic decision algorithm from multivariate predictive models by Ramalho Santos Silva, Ermelinda, Moreira Silva, Helena, Catarino, Cristina, Dias, Cláudia Camila, Santos Silva, Alice, Lopes, Ana Isabel

“…© Springer-Verlag GmbH Germany, part of Springer Nature 2021 Despite the recent advances involving molecular studies, the neonatal cholestasis (NC) diagnosis…”
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The Stool Color Card as a Screening Tool for Biliary Atresia in the Digital Version of the Portuguese Child and Youth Health Booklet by Ashworth, Joanna, Tavares, Marta, Santos Silva, Ermelinda, Lopes, Ana Isabel

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Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies by Ribeiro, Andreia, Brandão, José Ricardo, Cleto, Esmeralda, Santos, Manuela, Borges, Teresa, Santos Silva, Ermelinda

“…Introduction: Lipodystrophies are a heterogeneous group of rare diseases (genetic or acquired) characterized by a partial or generalized deficit of adipose…”
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Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children by Leuzinger Dias, Catarina, Maio, Inês, Brandão, José Ricardo, Tomás, Edite, Martins, Esmeralda, Santos Silva, Ermelinda

“…Background: The prevalence of non-alcoholic fatty liver disease (NAFLD) affecting children and adolescents has increased dramatically in recent years. This…”
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Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center by Santos Silva, Ermelinda, Almeida, Alexandra, Frutuoso, Simão, Martins, Esmeralda, Valente, Maria João, Santos-Silva, Alice, Lopes, Ana Isabel

“…Introduction: In the last two decades there have been advances in the diagnosis and management of neonatal cholestasis, which may have changed its…”
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Childhood Fructoholism and Fructoholic Liver Disease by Ribeiro, Andreia, Igual‐Perez, Maria‐Jose, Santos Silva, Ermelinda, Sokal, Etienne M.

“…Nonalcoholic fatty liver disease (NAFLD) is an emerging entity, becoming the most prevalent pediatric chronic liver disease. Its broad spectrum of histological…”
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Neonatal cholestasis: an uncommon presentation of hyperargininemia by Gomes Martins, Esmeralda, Santos Silva, Ermelinda, Vilarinho, Silvia, Saudubray, Jean Marie, Vilarinho, Laura

“…Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final…”
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Bile acids profile and redox status in healthy infants by Santos Silva, Ermelinda, Rocha, Susana, Candeias Ramos, Rita, Coutinho, Helena, Catarino, Cristina, Teixeira, Fernanda, Henriques, Graça, Lopes, Ana Isabel, Santos-Silva, Alice, Brites, Dora

“…Background At birth, human neonates are more likely to develop cholestasis and oxidative stress due to immaturity or other causes. We aimed to search for a…”
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Drug-Related Adverse Reactions in Pediatric Inflammatory Bowel Disease by Losa, Ana, Gomes, Rita, Mourão, Francisco Ribeiro, Cardoso, Sandra Soares, Vieira, Paula Manuel, Correia, Mário Rui, Silva, Helena Moreira, Silva, Gisela, Tavares, Marta, Silva, Ermelinda Santos, Lima, Rosa

“…The therapeutic approach to inflammatory bowel disease (IBD) is complex, often involving multiple pharmacologic classes. We aimed to evaluate the prevalence of…”
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Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association? by Ashworth, Joanna, Sousa Abreu, Vasco, Couto Guerra, Isabel, Almeida, Susana, Cunha, Catarina, Moreira Silva, Helena, Santos Silva, Ermelinda

“…Neurofibromatosis type 1 (NF‐1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous)…”
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Insights Into Pediatric Autoimmune Gastritis: Is There a Role for Helicobacter pylori Infection? by Moreira-Silva, Helena, Silva, Gisela, Costa, Emília, Guerra, Isabel, Santos-Silva, Ermelinda, Tavares, Marta, Cleto, Esmeralda, Lima, Rosa

“…OBJECTIVES:Autoimmune gastritis (AIG) is a chronic inflammatory condition of the gastric mucosa, mainly described in adults presenting with pernicious anemia…”
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Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson’s disease by Moura, João, Pinto, Catarina, Freixo, Pedro, Alves, Helder, Ramos, Cristina, Santos Silva, Ermelinda, Nery, Filipe, Gandara, Judit, Lopes, Vitor, Ferreira, Sofia, Presa, José, Ferreira, José Manuel, Miranda, Helena Pessegueiro, Magalhães, Marina

“…Introduction Wilson’s disease (WD) is associated with a variety of movement disorders and progressive neurological dysfunction. The aim of this study was to…”
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Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa by Santos Silva, Ermelinda, Klaudel-Dreszler, Maja, Bakuła, Agnieska, Oliva, Teresa, Sousa, Tereza, Fernandes, Paula Cristina, Tylki-Szymańska, Anna, Kamenets, Elena, Martins, Esmeralda, Socha, Piotr

“…Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure…”
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European lipodystrophy registry: background and structure by von Schnurbein, Julia, Adams, Claire, Akinci, Baris, Ceccarini, Giovanni, D'Apice, Maria Rosaria, Gambineri, Alessandra, Hennekam, Raoul C M, Jeru, Isabelle, Lattanzi, Giovanna, Miehle, Konstanze, Nagel, Gabriele, Novelli, Giuseppe, Santini, Ferruccio, Santos Silva, Ermelinda, Savage, David B, Sbraccia, Paolo, Schaaf, Jannik, Sorkina, Ekaterina, Tanteles, George, Vantyghem, Marie-Christine, Vatier, Camille, Vigouroux, Corinne, Vorona, Elena, Araújo-Vilar, David, Wabitsch, Martin

“…Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of…”
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Clinical practices among healthcare professionals concerning neonatal jaundice and pale stools by Santos Silva, Ermelinda, Moreira Silva, Helena, Azevedo Lijnzaat, Lia, Melo, Cláudia, Costa, Elísio, Martins, Esmeralda, Lopes, Ana Isabel

“…Jaundice and pale stools are major indicators of neonatal liver disease. Prognosis depends on timely diagnosis and management. We evaluated the clinical…”
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Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis? by Oliveira, Hugo M, Pereira, Cláudia, Santos Silva, Ermelinda, Pinto-Basto, Jorge, Pessegueiro Miranda, Helena

“…Abstract Background There are three types of progressive familial intrahepatic cholestasis (PFIC). Type 3 is characterized by elevated gamma-glutamyl…”
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A case of hepatopulmonary syndrome solved by mycophenolate mofetil (an inhibitor of angiogenesis and nitric oxide production) by Moreira Silva, Helena, Reis, Guilhermina, Guedes, Margarida, Cleto, Esmeralda, Vizcaíno, José Ramón, Kelly, Deirdre, Gennery, Andrew R, Santos Silva, Ermelinda

“…The autoimmune lymphoproliferative syndrome (ALPS) is a rare, multisystemic disease, caused by an inherited defect in the Fas apoptotic pathway, characterized…”
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Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption? by Moreira-Silva, Helena, Ferreira, Sandra, Almeida, Manuela, Gonçalves, Isabel, Cipriano, Maria Augusta, Vizcaíno, J. R., Santos-Silva, Ermelinda, Gomes-Martins, Esmeralda

“…BackgroundThe worldwide increase in pediatric overweight and obesity, in parallel with the global increase in the consumption of sucrose and fructose, is…”
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Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy by Soares, Ana Rita, Figueiredo, Catarina Matos, Quelhas, Dulce, Silva, Ermelinda Santos, Freitas, Joana, Oliveira, Maria João, Faria, Sameiro, Fortuna, Ana Maria, Borges, Teresa

“…Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the…”
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