Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

por Zekušić, Marija, Škaričić, Ana, Fumić, Ksenija, Rogić, Dunja, Žigman, Tamara, Petković Ramadža, Danijela, Vukojević, Nenad, Rüfenacht, Véronique, Uroić, Valentina, Barić, Ivo
Publicado 2018

The ethical framework for performing research with rare inherited neurometabolic disease patients

por Giannuzzi, Viviana, Devlieger, Hugo, Margari, Lucia, Odlind, Viveca Lena, Ragab, Lamis, Bellettato, Cinzia Maria, D’Avanzo, Francesca, Lampe, Christina, Cassis, Linda, Cortès-Saladelafont, Elisenda, Cazorla, Ángels Garcia, Barić, Ivo, Cvitanović-Šojat, Ljerka, Fumić, Ksenija, Dali, Christine I, Bartoloni, Franco, Bonifazi, Fedele, Scarpa, Maurizio, Ceci, Adriana
Publicado 2017

Current Status of Newborn Screening in Southeastern Europe

por Koracin, Vanesa, Mlinaric, Matej, Baric, Ivo, Brincat, Ian, Djordjevic, Maja, Drole Torkar, Ana, Fumic, Ksenija, Kocova, Mirjana, Milenkovic, Tatjana, Moldovanu, Florentina, Mulliqi Kotori, Vjosa, Nanu, Michaela Iuliana, Remec, Ziga Iztok, Repic Lampret, Barbka, Platis, Dimitrios, Savov, Alexey, Samardzic, Mira, Suzic, Biljana, Szatmari, Ildiko, Toromanovic, Alma, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh
Publicado 2021

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

por Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Herrero, Aida Ormazabal, Fons, Carme, Jou, Cristina, Sierra, Cristina, Castejon Ponce, Esperanza, Ramos, Federico, Armstrong, Judith, O’Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Olivas, Silvia Maria Meavilla, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I, D’Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Cazorla, Ángels Garcia-
Publicado 2015

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

por Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Ponce, Esperanza Castejon, Ramos, Federico, Armstrong, Judith, O’Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I., D’Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels
Publicado 2016