Hernan Amartino

TL;DR: Early results of this study suggest that Lenti‐D gene therapy may be a safe and effective alternative to allogeneic stem‐cell transplantation in boys with early‐stage cerebral adrenoleukodystrophy.

TL;DR: Among all randomly assigned patients with Fabry's disease (with mutant α-galactosidase forms that were suitable or not suitable for migalastat therapy), the percentage of patients who had a response at 6 months did not differ significantly between the migAlastat group and the placebo group.

TL;DR: The diagnostic gap and factors associated with diagnostic delays were examined among Pompe Registry patients in three onset categories; Group B, which represents the infantile patients without cardiomyopathy and juvenile Pompe cases, had the longest median gap.

TL;DR: This programme was conducted to provide evidence-based, expert-agreed recommendations to optimise management of MPS IVA and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life.

TL;DR: Using homology modeling, the impact of novel mutations on the 5 subunits of the eIF2B protein is analyzed and the high incidence of private or low frequency mutations increases the challenge of providing rapid genetic confirmation of this disorder, and limits the application of Eif2B screening in cases of undiagnosed leukodystrophy.