Gaucher disease type 1: the first experience of enzyme replacement therapy in pediatric practice in Moldova - case report

por Uşurelu, Natalia, Blăniţă, Daniela, Boiciuc, Chiril, Hlistun, Victoria, Egorov, Vladimir, Popovici, Eugen, Gnatcova, Elena, Stamati, Adela, Oglindă, Ana, Revenco, Ninel, Gladun, Sergiu, Ţurea, Valentin
Publicado 2021

Monitoring Methylmalonic Aciduria by NMR Urinomics

por Nicolescu, Alina, Blanita, Daniela, Boiciuc, Chiril, Hlistun, Victoria, Cristea, Mihaela, Rotaru, Dorina, Pinzari, Ludmila, Oglinda, Ana, Stamati, Adela, Tarcomnicu, Isabela, Tutulan-Cunita, Andreea, Stambouli, Danae, Gladun, Sergiu, Revenco, Ninel, Uşurelu, Natalia, Deleanu, Calin
Publicado 2020

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

por van Vliet, Danique, van Wegberg, Annemiek M.J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Hertecant, Jozef L., Leuzzi, Vincenzo, Mathisen, Per, Nardecchia, Francesca, Powell, Kimberly K., Rutsch, Frank, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., van Spronsen, Francjan J.
Publicado 2019

Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries

por Zerjav Tansek, Mojca, Groselj, Urh, Angelkova, Natalija, Anton, Dana, Baric, Ivo, Djordjevic, Maja, Grimci, Lindita, Ivanova, Maria, Kadam, Adil, Kotori, Vjosa, Maksic, Hajrija, Marginean, Oana, Margineanu, Otilia, Miljanovic, Olivera, Moldovanu, Florentina, Muresan, Mariana, Nanu, Michaela, Samardzic, Mira, Sarnavka, Vladimir, Savov, Aleksei, Stojiljkovic, Maja, Suzic, Biljana, Tincheva, Radka, Tahirovic, Husref, Toromanovic, Alma, Usurelu, Natalia, Battelino, Tadej
Publicado 2015

Can untreated PKU patients escape from intellectual disability? A systematic review

por van Vliet, Danique, van Wegberg, Annemiek M. J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D., Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L., Hollak, Carla E. M., Jørgensen, Jens V., Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö., Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K., Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., van Spronsen, Francjan J.
Publicado 2018

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

por Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O’Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C.J.I.
Publicado 2021