Issue 4/2017
Content (15 Articles)
SSIEM 2016
Role of miRNAs in human disease and inborn errors of metabolism
Ana Rivera-Barahona, Belén Pérez, Eva Richard, Lourdes R. Desviat
SSIEM 2016
Molecular therapy of primary hyperoxaluria
Cristina Martin-Higueras, Armando Torres, Eduardo Salido
Open Access
SSIEM 2016
Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects
Julien Baruteau, Simon N. Waddington, Ian E. Alexander, Paul Gissen
SSIEM 2016
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties
Arianna Maiorana, Carlo Dionisi-Vici
Open Access
SSIEM 2016
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I
Rachele Penati, Francesca Fumagalli, Valeria Calbi, Maria Ester Bernardo, Alessandro Aiuti
SSIEM 2016
Cysteamine revisited: repair of arginine to cysteine mutations
L. Gallego-Villar, Luciana Hannibal, J. Häberle, B. Thöny, T. Ben-Omran, G. K. Nasrallah, Al-N. Dewik, W. D. Kruger, H. J. Blom
Open Access
SSIEM 2016
MtDNA-maintenance defects: syndromes and genes
Carlo Viscomi, Massimo Zeviani
SSIEM 2016
High-content drug screening for rare diseases
F. Bellomo, D. L. Medina, E. De Leo, A. Panarella, F. Emma