Obstacles to Early Diagnosis of Gaucher Disease by Nishimura S, Ma C, Sidransky E, Ryan E

Subjects: Get full text

Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study by Christine Mae S. Avila, Mary Ann R. Abacan

Subjects: Get full text

The lived experience of migrant Syrian mothers’ interaction with the neonatal screening program by Mehmet Akif Sezerol, Zeynep Meva Altaş, Emrullah Arslan

Subjects: “…Newborn screening program…”
Get full text

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report by Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot

Subjects: Get full text

Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start by Marta Arrigoni, Nitash Zwaveling-Soonawala, Stephen H LaFranchi, A S Paul van Trotsenburg, Christiaan F Mooij

Subjects: “…newborn screening…”
Get full text

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary cen... by Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed

Subjects: Get full text

Inherited metabolic disorders… …do not miss treatable diseases… by Maria Giżewska

Subjects: Get full text

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center by Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

Subjects: “…Newborn screening (NBS)…”
Get full text

Timing of congenital cytomegalovirus diagnosis and missed opportunities by Mallory R. Baker, Xing Wang, Ann J. Melvin

Subjects: Get full text

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan by Nao Shibata, Chikahiko Numakura, Takashi Hamajima, Kenichi Miyako, Ikuma Fujiwara, Jun Mori, Akihiko Saitoh, Keisuke Nagasaki

Subjects: Get full text