Search Results - "Porta, Francesco"

On the cofactor conditions and further conditions of supercompatibility between phases by Della Porta, Francesco

“…In this paper we improve the understanding of the cofactor conditions, which are particular conditions of geometric compatibility between austenite and…”
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Exact Constructions in the (Non-linear) Planar Theory of Elasticity: From Elastic Crystals to Nematic Elastomers by Cesana, Pierluigi, Della Porta, Francesco, Rüland, Angkana, Zillinger, Christian, Zwicknagl, Barbara

“…In this article we deduce necessary and sufficient conditions for the presence of “Conti-type”, highly symmetric, exactly stress-free constructions in the…”
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Triplet condition: A new condition of supercompatibility between martensitic phases by Porta, Francesco Della, Heima, Akira, Shinohara, Yuri, Akamine, Hiroshi, Nishida, Minoru, Inamura, Tomonari

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies by Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S, Sivri, H Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A, Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F, Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M, Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya

“…Tetrahydrobiopterin (BH ) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine…”
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Lung ultrasound for the screening of interstitial lung disease in very early systemic sclerosis by Barskova, Tatiana, Gargani, Luna, Guiducci, Serena, Randone, Silvia Bellando, Bruni, Cosimo, Carnesecchi, Giulia, Conforti, Maria Letizia, Porta, Francesco, Pignone, Alberto, Caramella, Davide, Picano, Eugenio, Cerinic, Marco Matucci

“…A high percentage of patients with systemic sclerosis (SSc) develop interstitial lung disease (ILD) during the course of the disease. Promising data have…”
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Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists by Kalantari, Silvia, Brezzi, Brigida, Bracciamà, Valeria, Barreca, Antonella, Nozza, Paolo, Vaisitti, Tiziana, Amoroso, Antonio, Deaglio, Silvia, Manganaro, Marco, Porta, Francesco, Spada, Marco

“…Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive…”
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X‐ray reflectivity from curved surfaces as illustrated by a graphene layer on molten copper by Konovalov, Oleg V., Belova, Valentina, La Porta, Francesco, Saedi, Mehdi, Groot, Irene M. N., Renaud, Gilles, Snigireva, Irina, Snigirev, Anatoly, Voevodina, Maria, Shen, Chen, Sartori, Andrea, Murphy, Bridget M., Jankowski, Maciej

“…The X‐ray reflectivity technique can provide out‐of‐plane electron‐density profiles of surfaces, interfaces, and thin films, with atomic resolution accuracy…”
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Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia by Spada, Marco, Calvo, Pier Luigi, Brunati, Andrea, Peruzzi, Licia, Dell'Olio, Dominic, Romagnoli, Renato, Porta, Francesco

“…With conventional dietary treatment, the clinical course of methylmalonic acidemia due to cobalamin-unresponsive methylmalonyl-CoA mutase (MCM) deficiency is…”
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Analysis of a Moving Mask Hypothesis for Martensitic Transformations by Della Porta, Francesco

“…In this work we introduce a moving mask hypothesis to describe the dynamics of austenite-to-martensite phase transitions at a continuum level. In this…”
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Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy by Porta, Francesco, Maiorana, Arianna, Gragnaniello, Vincenza, Procopio, Elena, Gasperini, Serena, Taurisano, Roberta, Spada, Marco, Dionisi-Vici, Carlo, Burlina, Alberto

“…Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation…”
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Metabolic pseudoprogression in a patient with metastatic KIT exon 11 GIST after 1 month of first-line imatinib: a case report by Tassinari, Elisa, Conci, Nicole, Battisti, Giacomo, Porta, Francesco, Di Scioscio, Valerio, Pirini, Maria Giulia, de Biase, Dario, Nigro, Maria Concetta, Iezza, Miriam, Castagnetti, Fausto, Lovato, Luigi, Fanti, Stefano, Pantaleo, Maria Abbondanza, Nannini, Margherita

“…Positron emission tomography (PET) with 18-fluorodeoxyglucose ( FDG) has proven to be highly sensitive in the early assessment of tumor response in…”
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Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency by Porta, Francesco, MD, PhD, Ponzone, Alberto, Spada, Marco

“…Abstract Tetrahydrobiopterin (BH4) deficiencies are inherited neuro-metabolic disorders leading to monoamine neurotransmitters deficiency. An individualized…”
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Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus by Spagnoli, Carlotta, Battini, Roberta, Manti, Filippo, Cordelli, Duccio Maria, Pession, Andrea, Bellini, Melissa, Bordugo, Andrea, Cantalupo, Gaetano, Riva, Antonella, Striano, Pasquale, Spada, Marco, Porta, Francesco, Fusco, Carlo

“…Introduction. AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted…”
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Efficacy of a single ultrasound-guided injection of high molecular weight hyaluronic acid combined with collagen tripeptide in patients with knee osteoarthritis and chondrocalcinosis by Porta, Francesco, Filippucci, Emilio, Cipolletta, Edoardo, La Grua, Marco, Barni, Xenia, Sirotti, Silvia, Vreju, Florentin Ananu

“…Osteoarthritis (OA) and calcium pyrophosphate deposition (CPPD) often co-exist, this resulting in a clinical condition characterized by amplified inflammation…”
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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis by Kožich, Viktor, Schwahn, Bernd C, Sokolová, Jitka, Křížková, Michaela, Ditroi, Tamas, Krijt, Jakub, Khalil, Youssef, Křížek, Tomáš, Vaculíková-Fantlová, Tereza, Stibůrková, Blanka, Mills, Philippa, Clayton, Peter, Barvíková, Kristýna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, García-Cazorla, Ángeles, Haack, Tobias B, Honzík, Tomáš, Ješina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, René, Schwarz, Guenter, Nagy, Peter

“…Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by…”
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Insulinoma in pediatric tuberous sclerosis complex: a case report by Librandi, Katia, Grimaldi, Serena, Catalano, Silvia, Moro, Francesco, Vallero, Stefano Gabriele, Spada, Marco, Porta, Francesco

“…Background Tuberous sclerosis complex (TSC) is a rare multisystemic disorder. This genetically determined disease is characterized by highly variable clinical…”
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Liver transplantation in severe methylmalonic acidemia: The sooner, the better by Spada, Marco, MD, Calvo, Pier Luigi, MD, Brunati, Andrea, MD, Peruzzi, Licia, MD, Dell'Olio, Dominic, MD, Romagnoli, Renato, MD, Porta, Francesco, MD

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Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency by Porta, Francesco, MD, Ponzone, Alberto, MD, Spada, Marco, MD, PhD

“…The introduction of dopamine agonists for treating tetrahydrobiopterin deficiency imposes the evaluation of peripheral prolactin as the sole reliable…”
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Which are the most frequently involved peripheral joints in calcium pyrophosphate crystal deposition at imaging? A systematic literature review and meta-analysis by the OMERACT ultrasound - CPPD subgroup by Adinolfi, Antonella, Sirotti, Silvia, Sakellariou, Garifallia, Cipolletta, Edoardo, Filippucci, Emilio, Porta, Francesco, Zanetti, Anna, Ughi, Nicola, Sarzi-Puttini, Piercarlo, Scirè, Carlo Alberto, Keen, Helen, Pineda, Carlos, Terslev, Lene, D'Agostino, Maria Antonietta, Filippou, Georgios

“…To identify the prevalence of calcium pyrophosphate crystal deposition (CPPD) using ultrasound and conventional radiology at peripheral joints in patients with…”
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Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase by Roato, Ilaria, Porta, Francesco, Mussa, Alessandro, D'Amico, Lucia, Fiore, Ludovica, Garelli, Davide, Spada, Marco, Ferracini, Riccardo

“…Phenylketonuria (PKU) is a rare inborn error of metabolism often complicated by a progressive bone impairment of uncertain etiology, as documented by both…”
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