Search Results - "Furlan, Francesca"

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia by Di Filippo, Mathilde, Moulin, Philippe, Roy, Pascal, Samson-Bouma, Marie Elisabeth, Collardeau-Frachon, Sophie, Chebel-Dumont, Sabrina, Peretti, Noël, Dumortier, Jérôme, Zoulim, Fabien, Fontanges, Thierry, Parini, Rossella, Rigoldi, Miriam, Furlan, Francesca, Mancini, Grazia, Bonnefont-Rousselot, Dominique, Bruckert, Eric, Schmitz, Jacques, Scoazec, Jean Yves, Charrière, Sybil, Villar-Fimbel, Sylvie, Gottrand, Frederic, Dubern, Béatrice, Doummar, Diane, Joly, Francesca, Liard-Meillon, Marie Elisabeth, Lachaux, Alain, Sassolas, Agnès

“…Background & Aims Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with abetalipoproteinemia (ABL) and homozygous or compound heterozygous…”
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Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement by Paoletti, Matteo, Pichiecchio, Anna, Colafati, Giovanna Stefania, Conte, Giorgio, Deodato, Federica, Gasperini, Serena, Menni, Francesca, Furlan, Francesca, Rubert, Laura, Triulzi, Fabio Maria, Cinnante, Claudia

“…White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme…”
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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience by Ruoppolo, Margherita, Malvagia, Sabrina, Boenzi, Sara, Carducci, Carla, Dionisi-Vici, Carlo, Teofoli, Francesca, Burlina, Alberto, Angeloni, Antonio, Aronica, Tommaso, Bordugo, Andrea, Bucci, Ines, Camilot, Marta, Carbone, Maria Teresa, Cardinali, Roberta, Carducci, Claudia, Cassanello, Michela, Castana, Cinzia, Cazzorla, Chiara, Ciatti, Renzo, Ferrari, Simona, Frisso, Giulia, Funghini, Silvia, Furlan, Francesca, Gasperini, Serena, Gragnaniello, Vincenza, Guzzetti, Chiara, La Marca, Giancarlo, La Spina, Luisa, Lorè, Tania, Meli, Concetta, Messina, MariaAnna, Morrone, Amelia, Nardecchia, Francesca, Ortolano, Rita, Parenti, Giancarlo, Pavanello, Enza, Pieragostino, Damiana, Pillai, Sara, Porta, Francesco, Righetti, Francesca, Rossi, Claudia, Rovelli, Valentina, Salina, Alessandro, Santoro, Laura, Sauro, Pina, Schiaffino, Maria Cristina, Simonetti, Simonetta, Vincenzi, Monica, Tarsi, Elisabetta, Uccheddu, Anna Paola

“…Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis…”
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Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy by Manara, Renzo, Priante, Elena, Grimaldi, Marco, Santoro, Lucia, Astarita, Luca, Barone, Rita, Concolino, Daniela, Di Rocco, Maja, Donati, Maria Alice, Fecarotta, Simona, Ficcadenti, Anna, Fiumara, Agata, Furlan, Francesca, Giovannini, Irene, Lilliu, Franco, Mardari, Rodica, Polonara, Gabriele, Procopio, Elena, Rampazzo, Angelica, Rossi, Andrea, Sanna, Graziolina, Parini, Rossella, Scarpa, Maurizio

“…Backgroud Hunter disease is a rare X-linked mucopolysaccharidosis. Despite frequent neurological involvement, characterizing the severe phenotype, neuroimaging…”
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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy by Furlan, Francesca, Rovelli, Attilio, Rigoldi, Miriam, Filocamo, Mirella, Tappino, Barbara, Friday, Douglas, Gasperini, Serena, Mariani, Silvana, Izzi, Claudia, Bondioni, Maria Pia, Gellera, Cinzia, Venerando, Anna, Villa, Nicoletta, Del Carmen Rodriguez Perez, Maria, Pavan, Fabio, Biondi, Andrea, Parini, Rossella

“…A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he…”
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Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study by Bani, Marco, Russo, Selena, Raggi, Erika, Gasperini, Serena, Motta, Serena, Menni, Francesca, Furlan, Francesca, Cefalo, Graziella, Paci, Sabrina, Banderali, Giuseppe, Marchisio, Paola, Biondi, Andrea, Strepparava, Maria Grazia

“…The process of receiving a communication of positivity for metabolic diseases at expanded newborn screening (ENBS) is extremely articulated, involves a variety…”
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Pancreatic hyperamylasemia during acute gastroenteritis: incidence and clinical relevance by Tositti, G, Fabris, P, Barnes, E, Furlan, F, Franzetti, M, Stecca, C, Pignattari, E, Pesavento, V, de Lalla, F

“…Many case reports of acute pancreatitis have been reported but, up to now, pancreatic abnormalities during acute gastroenteritis have not been studied…”
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation by Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter

“…Background The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific…”
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype by Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Garcia Cazorla, Angeles

“…Background The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. Aims…”
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A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy by Ronchi, Dario, Garbellini, Manuela, Magri, Francesca, Menni, Francesca, Meneri, Megi, Bedeschi, Maria Francesca, Dilena, Robertino, Cecchetti, Valeria, Picciolli, Irene, Furlan, Francesca, Polimeni, Valentina, Salani, Sabrina, Pezzoli, Laura, Fortunato, Francesco, Bellini, Matteo, Piga, Daniela, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Sciacco, Monica, Mangili, Giovanna, Mosca, Fabio, Corti, Stefania, Iascone, Maria, Comi, Giacomo Pietro

“…Pathogenic variants impacting upon assembly of mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) predominantly result in early onset…”
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High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease by Polo, Giulia, Burlina, Alessandro, Furlan, Francesca, Kolamunnage, Thilini, Cananzi, Mara, Giordano, Laura, Zaninotto, Martina, Plebani, Mario, Burlina, Alberto

“…Niemann-Pick disease type C (NPC) is a rare lipid storage disorder characterized by progressive neurological deterioration. Diagnosing NPC is challenging as…”
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Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report by Cattaneo, Valentina, Caccioppola, Alessio, Colombo, Sebastiano Maria, Scaravilli, Vittorio, Tubiolo, Daniela, Crotti, Stefania, Bosone, Marco, Rafaniello Raviele, Paola, Olmeda, Edoardo, Menni, Francesca, Furlan, Francesca, Rossetti, Valeria, Damarco, Francesco, Panigada, Mauro, Grasselli, Giacomo

“…•Hyperammonemia after lung transplantation is a potentially fatal complication.•Glutamine synthetase deficiency and Ureaplasma colonization are possible…”
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Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible? by Tucci, Sara, Wagner, Christine, Grünert, Sarah C., Matysiak, Uta, Weinhold, Natalie, Klein, Jeannette, Porta, Francesco, Spada, Marco, Bordugo, Andrea, Rodella, Giulia, Furlan, Francesca, Sajeva, Anna, Menni, Francesca, Spiekerkoetter, Ute

“…Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochondrial β‐oxidation. Confirmation diagnostics after newborn screening…”
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Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy by Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline A., Shamseldin, Hanan E., Haack, Tobias B., Reyes, Aurelio, Tsukikawa, Mai, Sheldon, Claire A., Srinivasan, Satish, Gorza, Matteo, Kremer, Laura S., Wieland, Thomas, Strom, Tim M., Polyak, Erzsebet, Place, Emily, Consugar, Mark, Ostrovsky, Julian, Vidoni, Sara, Robinson, Alan J., Wong, Lee-Jun, Sondheimer, Neal, Salih, Mustafa A., Al-Jishi, Emtethal, Raab, Christopher P., Bean, Charles, Furlan, Francesca, Parini, Rossella, Lamperti, Costanza, Mayr, Johannes A., Konstantopoulou, Vassiliki, Huemer, Martina, Pierce, Eric A., Meitinger, Thomas, Freisinger, Peter, Sperl, Wolfgang, Prokisch, Holger, Alkuraya, Fowzan S., Falk, Marni J., Zeviani, Massimo

“…Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies,…”
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Preliminary Results of Gau-PED Study: Prevalence of Gaucher Disease in Paediatric Patients Selected By an Appropriate Diagnostic Algorithm by Morello, William, Filocamo, Mirella, Stroppiano, Marina, Di Rocco, Maja, Tovaglieri, Nicola, Russo, Giovanna, Furlan, Francesca, Burnelli, Roberta, Pession, Andrea

“…Gaucher disease (GD) is an autosomal recessive lysosomal storage disease characterized by the deficient activity of beta-glucocerebrosidase (GBA). GBA…”
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Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes by Pichiecchio, Anna, Rossi, Marta, Cinnante, Claudia, Colafati, Giovanna Stefania, Icco, Roberto, Parini, Rossella, Menni, Francesca, Furlan, Francesca, Burlina, Alberto, Sacchini, Michele, Donati, Maria Alice, Fecarotta, Simona, Casa, Roberto Della, Deodato, Federica, Taurisano, Roberta, Rocco, Maja

“…ABSTRACT Introduction The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic…”
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High level of oxysterols in neonatal cholestasis: A pitfall in analysis of biochemical markers for Niemann-Pick disease type C by Polo, Giulia, Burlina, Alessandro P., Furlan, Francesca, Kolamunnage, Thilini, Giordano, Laura, Zaninotto, Martina, Burlina, Alberto B.

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IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles by Bertola, Francesca, Filocamo, Mirella, Casati, Giorgio, Mort, Matthew, Rosano, Camillo, Tylki-Szymanska, Anna, Tüysüz, Beyhan, Gabrielli, Orazio, Grossi, Serena, Scarpa, Maurizio, Parenti, Giancarlo, Antuzzi, Daniela, Dalmau, Jaime, Rocco, Maja Di, Vici, Carlo Dionisi, Okur, Ilyas, Rosell, Jordi, Rovelli, Attilio, Furlan, Francesca, Rigoldi, Miriam, Biondi, Andrea, Cooper, David N, Parini, Rossella

“…Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopolysaccharidosis type I. A total of 54 distinct mutant IDUA…”
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Newborn screening for lysosomal diseases: The Italian experience by Burlina, Alberto B., Polo, Giulia, Furlan, Francesca, Lusiani, Elisa, Kolamunnage, Thilini B., Del Rizzo, Monica, Giordano, Laura, Ranieri, Enzo

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Lysosphingolipids in dried blood spots as biomarkers for lysosomal diseases by Polo, Giulia, Kolamunnage, Thilini B., Burlina, Alessandro P., Furlan, Francesca, Celato, Andrea, Del Rizzo, Monica, Giordano, Laura, Burlina, Alberto B.

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