Carnitine transport and fatty acid oxidation von Longo, Nicola, Frigeni, Marta, Pasquali, Marzia

Volltext

Disorders of biopterin metabolism von Longo, Nicola

Volltext

Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis von Simcox, Judith, Geoghegan, Gisela, Maschek, John Alan, Bensard, Claire L., Pasquali, Marzia, Miao, Ren, Lee, Sanghoon, Jiang, Lei, Huck, Ian, Kershaw, Erin E., Donato, Anthony J., Apte, Udayan, Longo, Nicola, Rutter, Jared, Schreiber, Renate, Zechner, Rudolf, Cox, James, Villanueva, Claudio J.

Volltext

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories von Häberle, Johannes, Chakrapani, Anupam, Ah Mew, Nicholas, Longo, Nicola

Volltext

Clinically significant prostate cancer detection on MRI: A radiomic shape features study von Cuocolo, Renato, Stanzione, Arnaldo, Ponsiglione, Andrea, Romeo, Valeria, Verde, Francesco, Creta, Massimiliano, La Rocca, Roberto, Longo, Nicola, Pace, Leonardo, Imbriaco, Massimo

Volltext

SARS‐CoV‐2 infection affects the lower urinary tract and male genital system: A systematic review von Creta, Massimiliano, Sagnelli, Caterina, Celentano, Giuseppe, Napolitano, Luigi, La Rocca, Roberto, Capece, Marco, Califano, Gianluigi, Calogero, Armando, Sica, Antonello, Mangiapia, Francesco, Ciccozzi, Massimo, Fusco, Ferdinando, Mirone, Vincenzo, Sagnelli, Evangelista, Longo, Nicola

Volltext

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 do... von Longo, Nicola, MD, Harding, Cary O, MD, Burton, Barbara K, MD, Grange, Dorothy K, MD, Vockley, Jerry, MD, Wasserstein, Melissa, MD, Rice, Gregory M, MD, Dorenbaum, Alejandro, MD, Neuenburg, Jutta K, MD, Musson, Donald G, PhD, Gu, Zhonghua, PhD, Sile, Saba, MD

Volltext

Deep Learning for Automatic Vision-based Recognition of Industrial Surface Defects: a Survey von Prunella, Michela, Scardigno, Roberto M., Buongiorno, Domenico, Brunetti, Antonio, Longo, Nicola, Carli, Raffaele, Dotoli, Mariagrazia, Bevilacqua, Vitoantonio

Volltext

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism von Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R

Volltext

Testicular cancer and YouTube: What do you expect from a social media platform? von Di Bello, Francesco, Collà Ruvolo, Claudia, Cilio, Simone, La Rocca, Roberto, Capece, Marco, Creta, Massimiliano, Celentano, Giuseppe, Califano, Gianluigi, Morra, Simone, Iacovazzo, Carmine, Coviello, Antonio, Buonanno, Pasquale, Fusco, Ferdinando, Imbimbo, Ciro, Mirone, Vincenzo, Longo, Nicola

Volltext

A multicentre matched‐pair analysis comparing robot‐assisted versus open partial nephrectomy von Ficarra, Vincenzo, Minervini, Andrea, Antonelli, Alessandro, Bhayani, Sam, Guazzoni, Giorgio, Longo, Nicola, Martorana, Giuseppe, Morgia, Giuseppe, Mottrie, Alexander, Porter, James, Simeone, Claudio, Vittori, Gianni, Zattoni, Filiberto, Carini, Marco

Volltext

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle von Longo, Nicola

Volltext

Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review von Napolitano, Luigi, Barone, Biagio, Morra, Simone, Celentano, Giuseppe, La Rocca, Roberto, Capece, Marco, Morgera, Vincenzo, Turco, Carmine, Caputo, Vincenzo Francesco, Spena, Gianluca, Romano, Lorenzo, De Luca, Luigi, Califano, Gianluigi, Collà Ruvolo, Claudia, Mangiapia, Francesco, Mirone, Vincenzo, Longo, Nicola, Creta, Massimiliano

Volltext

Inline Defective Laser Weld Identification by Processing Thermal Image Sequences with Machine and Deep Learning Techniques von Buongiorno, Domenico, Prunella, Michela, Grossi, Stefano, Hussain, Sardar Mehboob, Rennola, Alessandro, Longo, Nicola, Di Stefano, Giovanni, Bevilacqua, Vitoantonio, Brunetti, Antonio

Volltext

Validation of the 2009 TNM Version in a Large Multi-Institutional Cohort of Patients Treated for Renal Cell Carcinoma: Are Further Improvements Needed? von Novara, Giacomo, Ficarra, Vincenzo, Antonelli, Alessandro, Artibani, Walter, Bertini, Roberto, Carini, Marco, Cosciani Cunico, Sergio, Imbimbo, Ciro, Longo, Nicola, Martignoni, Guido, Martorana, Giuseppe, Minervini, Andrea, Mirone, Vincenzo, Montorsi, Francesco, Schiavina, Roberto, Simeone, Claudio, Serni, Sergio, Simonato, Alchiede, Siracusano, Salvatore, Volpe, Alessandro, Carmignani, Giorgio

Volltext

Phenylketonuria and the brain von Rovelli, Valentina, Longo, Nicola

Volltext

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria von Whitehall, Kaleigh B, Rose, Sarah, Clague, Gillian E, Ahring, Kirsten K, Bilder, Deborah A, Harding, Cary O, Hermida, Álvaro, Inwood, Anita, Longo, Nicola, Maillot, François, Muntau, Ania C, Pessoa, André L S, Rocha, Júlio C, Rohr, Fran, Sivri, Serap, Said, Jack, Oshinbolu, Sheun, Sibbring, Gillian C

Volltext

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study von Longo, Nicola, Zori, Roberto, Wasserstein, Melissa P, Vockley, Jerry, Burton, Barbara K, Decker, Celeste, Li, Mingjin, Lau, Kelly, Jiang, Joy, Larimore, Kevin, Thomas, Janet A

Volltext

Meta-analysis of bone mineral density in adults with phenylketonuria von Rocha, Júlio C, Hermida, Álvaro, Jones, Cheryl J, Wu, Yunchou, Clague, Gillian E, Rose, Sarah, Whitehall, Kaleigh B, Ahring, Kirsten K, Pessoa, André L S, Harding, Cary O, Rohr, Fran, Inwood, Anita, Longo, Nicola, Muntau, Ania C, Sivri, Serap, Maillot, François

Volltext

P317: Phenotypic variability among three family members with RAD21 Cornelia de Lange syndrome von Cole, Stacey, Shayota, Brian, Taliercio, Vanina, Stebbins, Brianna, Akay, Gulsen, Longo, Nicola

Volltext