Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy

Por Mastrangelo, Mario
Publicado no J Pediatr Neurosci (2018)

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood

Por Mastrangelo, Mario, Manti, Filippo, Giannini, Maria Teresa, Guerrini, Renzo, Leuzzi, Vincenzo
Publicado no Neurol Genet (2020)

Successful Pregnancy in a Patient with L‐Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome

Por Mastrangelo, Mario, Manti, Filippo, Patanè, Luisa, Ferrari, Stefania, Carducci, Carla, Carducci, Claudia, Mangili, Giovanna, Leuzzi, Vincenzo
Publicado no Mov Disord Clin Pract (2018)

Early Post-cooling Brain Magnetic Resonance for the Prediction of Neurodevelopmental Outcome in Newborns with Hypoxic–Ischemic Encephalopathy

Por Mastrangelo, Mario, Di Marzo, Giulia, Chiarotti, Flavia, Andreoli, Chiara, Colajacomo, Maria Chiara, Ruggieri, Anna, Papoff, Paola
Publicado no J Pediatr Neurosci (2019)

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

Por Mastrangelo, Mario, Alfonsi, Chiara, Screpanti, Isabella, Masuelli, Laura, Tavazzi, Barbara, Mei, Davide, Giannotti, Flavia, Guerrini, Renzo, Leuzzi, Vincenzo
Publicado no Mol Genet Metab Rep (2019)

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)

Por di Salvo, Martino L., Mastrangelo, Mario, Nogués, Isabel, Tolve, Manuela, Paiardini, Alessandro, Carducci, Carla, Mei, Davide, Montomoli, Martino, Tramonti, Angela, Guerrini, Renzo, Contestabile, Roberto, Leuzzi, Vincenzo
Publicado no Data Brief (2017)

Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

Por Leuzzi, Vincenzo, Mastrangelo, Mario, Polizzi, Agata, Artiola, Cristiana, van Kuilenburg, André B. P., Carducci, Carla, Ruggieri, Martino, Barone, Rita, Tavazzi, Barbara, Abeling, Nico G. G. M., Zoetekouw, Lida, Sofia, Vito, Zappia, Mario, Carducci, Claudia
Publicado no JIMD Rep (2014)

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Por Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Publicado no Mol Genet Metab Rep (2016)

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Por Pearson, Toni S., Gilbert, Laura, Opladen, Thomas, Garcia‐Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K. H., Sykut‐Cegielska, Jolanta, Pons, Roser, Mercimek‐Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A., Steel, Dora, Manti, Filippo, Meeks, Kathleen D., Jeltsch, Kathrin, Flint, Lisa
Publicado no J Inherit Metab Dis (2020)

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Por Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
Publicado no Orphanet J Rare Dis (2017)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

Por 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
Publicado no Orphanet J Rare Dis (2020)

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Por 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
Publicado no Orphanet J Rare Dis (2020)