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DNAJC12 Disease Manti, Filippo; Ricciardi, Giacomina; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Carbone, Maria Teresa; Carducci, Claudia; Mei, Davide; Porta, Francesco; Ortolano, Rita; Candela, Egidio; Burlina, Alberto; Guerrini, Renzo; Pisani, Francesco; Angeloni, Antonio; Leuzzi, Vincenzo Share Save
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Splenic artery embolization for refractory ascites after liver transplantation: a single-center experience Taninokuchi Tomassoni, Makoto; Ingraldi, Luciana; Pianta, Paolo; Cappelli, Alberta; Braccischi, Lorenzo; Porta, Francesco; De Cinque, Antonio; Modestino, Francesco; Ravaioli, Matteo; Serenari, Matteo; Mirici Cappa, Federica; Morelli, Maria Cristina; Cescon, Matteo; Mosconi, Cristina Share Save
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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 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 Share Save
A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU Rondanelli, Mariangela; Porta, Francesco; Gasparri, Clara; Barrile, Gaetan Claude; Cavioni, Alessandro; Mansueto, Francesca; Mazzola, Giuseppe; Patelli, Zaira; Peroni, Gabriella; Pirola, Martina; Razza, Claudia; Tartara, Alice; Perna, Simone Share Save
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 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; Lore, 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 Share Save
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists Kalantari, Silvia; Brezzi, Brigida; Bracciama, Valeria; Barreca, Antonella; Nozza, Paolo; Vaisitti, Tiziana; Amoroso, Antonio; Deaglio, Silvia; Manganaro, Marco; Porta, Francesco; Spada, Marco Share Save
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome Masnada, Silvia; Sarret, Catherine; Antonello, Clara Eleonora; Fadilah, Ala; Krude, Heiko; Mura, Eleonora; Mordekar, Santosh; Nicita, Francesco; Olivotto, Sara; Orcesi, Simona; Porta, Francesco; Remerand, Ganaelle; Siri, Barbara; Wilpert, Nina-Maria; Amir-Yazdani, Pouneh; Bertini, Enrico; Schuelke, Markus; Bernard, Genevieve; Boespflug-Tanguy, Odile; Tonduti, Davide Share Save
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study van Geest, Ferdy S.; Groeneweg, Stefan; van den Akker, Erica L. T.; Bacos, Iuliu; Barca, Diana; van den Berg, Sjoerd A. A.; Bertini, Enrico; Brunner, Doris; Brunetti-Pierri, Nicola; Cappa, Marco; Cappuccio, Gerarda; Chatterjee, Krishna; Chesover, Alexander D.; Christian, Peter; Coutant, Regis; Craiu, Dana; Crock, Patricia; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi R.; George, Belinda; Hackenberg, Annette; Heinrich, Bianka; Huynh, Tony; Klosowska, Anna; Lawson-Yuen, Amy; Linder-Lucht, Michaela; Lyons, Greta; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E.; Paone, Laura; Paul, Praveen G.; Polak, Michel; Porta, Francesco; Reinauer, Christina; de Rijke, Yolanda B.; Seckold, Rowen; Menevse, Tuba Seven; Simm, Peter; Simon, Anna; Spada, Marco; Stoupa, Athanasia; Szeifert, Lilla; Tonduti, Davide; van Toor, Hans; Turan, Serap; Vanderniet, Joel; de Waart, Monique; van der Wal, Ronald; van der Walt, Adri; Van Wermeskerken, Anne-Marie; Wierzba, Jolanta; Zibordi, Federica; Zung, Amnon; Peeters, Robin P.; Visser, W. Edward Share Save
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines Huebschmann, Oya Kuseyri; Horvath, Gabriella; Cortes-Saladelafont, Elisenda; Yildiz, Yilmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios, I; Kulhanek, Jan; Kurian, Manju A.; Lopez-Laso, Eduardo; Oppeboen, Mari; Kilavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Buergi, Sabine; Porta, Francesco; Honzik, Tomas; Santer, Rene; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Huebschmann, Daniel; Garbade, Sven F.; Garcia-Cazorla, Angeles; Opladen, Thomas Share Save
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Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients Manti, Filippo; Nardecchia, Francesca; Banderali, Giuseppe; Burlina, Alberto; Carducci, Carla; Carducci, Claudia; Donati, Maria Alice; Gueraldi, Daniela; Paci, Sabrina; Pochiero, Francesca; Porta, Francesco; Ortolano, Rita; Rovelli, Valentina; Schiaffino, Maria Cristina; Spada, Marco; Blau, Nenad; Leuzzi, Vincenzo Share Save
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (vol 15, 126, 2020) Opladen, Thomas; Lopez-Laso, Eduardo; Cortes-Saladelafont, Elisenda; Pearson, Toni S.; Sivri, H. Serap; Yildiz, Yilmaz; Assmann, Birgit; Kurian, Manju A.; Leuzzi, Vincenzo; Heales, Simon; Pope, Simon; Porta, Francesco; Garcia-Cazorla, Angeles; Honzik, Tomas; Pons, Roser; Regal, Luc; Goez, Helly; Artuch, Rafael; Hoffmann, Georg F.; Horvath, Gabriella; Thoeny, Beat; Scholl-Buergi, Sabine; Burlina, Alberto; Verbeek, Marcel M.; Mastrangelo, Mario; Friedman, Jennifer; Wassenberg, Tessa; Jeltsch, Kathrin; Kulhanek, Jan; Kuseyri Huebschmann, Oya Share Save
The Genetic Landscape and Epidemiology of Phenylketonuria Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K.; Carducci, Carla; Chiesa, Ana E.; Christodoulou, John; Dordevic, Maja; Desviat, Lourdes R.; Eliyahu, Aviva; Evers, Roeland A. F.; Fajkusova, Lena; Feillet, Francois; Bonfim-Freitas, Pedro E.; Gizewska, Maria; Gundorova, Polina; Karall, Daniela; Kneller, Katya; Kutsev, Sergey, I; Leuzzi, Vincenzo; Levy, Harvey L.; Lichter-Konecki, Uta; Muntau, Ania C.; Namour, Fares; Oltarzewski, Mariusz; Paras, Andrea; Perez, Belen; Polak, Emil; Polyakov, Alexander, V; Porta, Francesco; Rohrbach, Marianne; Scholl-Burgi, Sabine; Specola, Norma; Stojiljkovic, Maja; Shen, Nan; Santana-da Silva, Luiz C.; Skouma, Anastasia; van Spronsen, Francjan; Stoppioni, Vera; Thony, Beat; Trefz, Friedrich K.; Vockley, Jerry; Yu, Youngguo; Zschocke, Johannes; Hoffmann, Georg F.; Garbade, Sven F.; Blau, Nenad Share Save
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