Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy

по Mastrangelo, Mario
Опубликовано в: J Pediatr Neurosci (2018)

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

по Mastrangelo, Mario, Manti, Filippo, Giannini, Maria Teresa, Guerrini, Renzo, Leuzzi, Vincenzo
Опубликовано в: Neurol Genet (2020)

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

по Mastrangelo, Mario, Manti, Filippo, Patanè, Luisa, Ferrari, Stefania, Carducci, Carla, Carducci, Claudia, Mangili, Giovanna, Leuzzi, Vincenzo
Опубликовано в: Mov Disord Clin Pract (2018)

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

по Mastrangelo, Mario, Di Marzo, Giulia, Chiarotti, Flavia, Andreoli, Chiara, Colajacomo, Maria Chiara, Ruggieri, Anna, Papoff, Paola
Опубликовано в: J Pediatr Neurosci (2019)

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

по Mastrangelo, Mario, Alfonsi, Chiara, Screpanti, Isabella, Masuelli, Laura, Tavazzi, Barbara, Mei, Davide, Giannotti, Flavia, Guerrini, Renzo, Leuzzi, Vincenzo
Опубликовано в: Mol Genet Metab Rep (2019)

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

по 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
Опубликовано в: 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?

по 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
Опубликовано в: JIMD Rep (2014)

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

по 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
Опубликовано в: Mol Genet Metab Rep (2016)

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

по 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
Опубликовано в: J Inherit Metab Dis (2020)

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

по 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
Опубликовано в: Orphanet J Rare Dis (2017)

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

по 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
Опубликовано в: Orphanet J Rare Dis (2020)

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

по 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
Опубликовано в: Orphanet J Rare Dis (2020)