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Francesca Furlan
Researcher at Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Publications - 34
Citations - 1119
Francesca Furlan is an academic researcher from Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. The author has contributed to research in topics: Urea cycle & Urea cycle disorder. The author has an hindex of 15, co-authored 32 publications receiving 937 citations. Previous affiliations of Francesca Furlan include University of Milano-Bicocca & University of Milan.
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Journal ArticleDOI
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker,Angeles Garcia Cazorla,Vassili Valayannopoulos,Allan M. Lund,Alberto Burlina,Jolanta Sykut-Cegielska,Frits A. Wijburg,Elisa Leão Teles,Jiri Zeman,Carlo Dionisi-Vici,Ivo Barić,Daniela Karall,Persephone Augoustides-Savvopoulou,Lise Aksglaede,Jean Baptiste Arnoux,Paula Avram,Matthias R. Baumgartner,Javier Blasco-Alonso,Brigitte Chabrol,Anupam Chakrapani,Kimberly A. Chapman,Elisenda Cortès i Saladelafont,María L. Couce,Linda De Meirleir,Dries Dobbelaere,Veronika Dvorakova,Francesca Furlan,Florian Gleich,Wanda Gradowska,Stephanie Grunewald,Anil Jalan,Johannes Häberle,Gisela Haege,Robin H. Lachmann,Alexander Laemmle,Eveline J. Langereis,Pascale de Lonlay,Diego Martinelli,Shirou Matsumoto,Chris Mühlhausen,Hélène Ogier de Baulny,Carlos Ortez,Luis Peña-Quintana,Danijela Petković Ramadža,Esmeralda Rodrigues,Sabine Scholl-Bürgi,Etienne Sokal,Christian Staufner,Marshall L. Summar,Nicholas Thompson,Roshni Vara,Inmaculada Vives Pinera,John H. Walter,Monique Williams,Peter Burgard +54 more
TL;DR: For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be moresevere in MMA and PA patients with late onset of symptoms.
Journal ArticleDOI
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker,Vassili Valayannopoulos,Alberto Burlina,Jolanta Sykut-Cegielska,Frits A. Wijburg,Elisa Leão Teles,Jiri Zeman,Carlo Dionisi-Vici,Ivo Barić,Daniela Karall,Jean Baptiste Arnoux,Paula Avram,Matthias R. Baumgartner,Javier Blasco-Alonso,S. P Nikolas Boy,Marlene Bøgehus Rasmussen,Peter Burgard,Brigitte Chabrol,Anupam Chakrapani,Kimberly A. Chapman,Elisenda Cortès i Saladelafont,María L. Couce,Linda De Meirleir,Dries Dobbelaere,Francesca Furlan,Florian Gleich,Maria Julieta González,Wanda Gradowska,Stephanie Grunewald,Tomas Honzik,Friederike Hörster,Hariklea Ioannou,Anil Jalan,Johannes Häberle,Gisela Haege,Eveline J. Langereis,Pascale de Lonlay,Diego Martinelli,Shirou Matsumoto,Chris Mühlhausen,Elaine Murphy,Hélène Ogier de Baulny,Carlos Ortez,Consuelo C. Pedrón,Guillem Pintos-Morell,Luis Peña-Quintana,Danijela Petković Ramadža,Esmeralda Rodrigues,Sabine Scholl-Bürgi,Etienne Sokal,Marshall L. Summar,Nicholas Thompson,Roshni Vara,Inmaculada Vives Pinera,John H. Walter,Monique Williams,Allan M. Lund,Angeles Garcia Cazorla +57 more
TL;DR: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs follows a disease-specific pattern, and the identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.
Journal ArticleDOI
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Xiaowu Gai,Daniele Ghezzi,Mark A. Johnson,Caroline Biagosch,Hanan E. Shamseldin,Tobias B. Haack,Aurelio Reyes,Mai Tsukikawa,Claire A. Sheldon,Satish Srinivasan,Matteo Gorza,Laura S. Kremer,Thomas Wieland,Tim M. Strom,Erzsebet Polyak,Emily Place,Emily Place,Mark B. Consugar,Julian Ostrovsky,Sara Vidoni,Alan J. Robinson,Lee-Jun C. Wong,Neal Sondheimer,Mustafa A. Salih,Emtethal Al-Jishi,Christopher P. Raab,Charles Bean,Francesca Furlan,Rossella Parini,Costanza Lamperti,Johannes A. Mayr,Vassiliki Konstantopoulou,Martina Huemer,Eric A. Pierce,Eric A. Pierce,Thomas Meitinger,Peter Freisinger,Wolfgang Sperl,Holger Prokisch,Fowzan S. Alkuraya,Marni J. Falk,Massimo Zeviani +41 more
TL;DR: It is demonstrated that FBXL4 is targeted to mitochondria and localizes in the intermembrane space, where it participates in an approximately 400 kDa protein complex, which strongly support a role forFBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance.
Journal ArticleDOI
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
Mathilde Di Filippo,Philippe Moulin,Pascal Roy,Marie Elisabeth Samson-Bouma,Sophie Collardeau-Frachon,Sabrina Chebel-Dumont,Noël Peretti,Jérôme Dumortier,Fabien Zoulim,T. Fontanges,Rossella Parini,Miriam Rigoldi,Francesca Furlan,Grazia M.S. Mancini,Dominique Bonnefont-Rousselot,Eric Bruckert,Jacques Schmitz,Jean-Yves Scoazec,Sybil Charrière,Sylvie Villar-Fimbel,Frédéric Gottrand,Béatrice Dubern,Diane Doummar,Francesca Joly,Marie Elisabeth Liard-Meillon,Alain Lachaux,Agnès Sassolas +26 more
TL;DR: It is suggested that the genetic defect in VLDL assembly is critical for the occurrence of liver steatosis leading to fibrosis and shows that obesity and insulin resistance might contribute by increasing lipogenesis.
Journal ArticleDOI
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
Renzo Manara,Elena Priante,M Grimaldi,Lucia Santoro,Luca Astarita,Rita Barone,Daniela Concolino,Maja Di Rocco,Maria Alice Donati,Simona Fecarotta,Anna Ficcadenti,Agata Fiumara,Francesca Furlan,Irene Giovannini,Franco Lilliu,Rodica Mardari,Gabriele Polonara,Elena Procopio,Angelica Rampazzo,Andrea Rossi,Graziolina Sanna,Rossella Parini,Maurizio Scarpa +22 more
TL;DR: The spectrum of brain and spine MRI abnormalities in Hunter disease is extremely wide and requires a thorough evaluation and WMAs, atrophy/communicating hydrocephalus and spinal stenosis progress over time and might represent possible disease severity markers for new treatment efficacy assessment.