Ana María Martins

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Raphael Schiffmann, Derralynn Hughes, Gabor E. Linthorst et al. · Kidney International · 2016 · 175 citations

Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial

Timothy M. Cox, Guillermo Drelichman, Renata Cravo et al. · The Lancet · 2015 · 150 citations

Enzyme Replacement Therapy, Substrate Reduction Therapy, Disease Type 1 +2

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Paul Harmatz, Eugen Mengel, Roberto Giugliani et al. · Molecular Genetics and Metabolism · 2013 · 143 citations · Full text

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy

Timothy M. Cox, Guillermo Drelichman, Renata Cravo et al. · Blood · 2017 · 90 citations · Full text

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Nouriya Al‐Sannaa, Luisa Bay, Deborah Barbouth et al. · Orphanet Journal of Rare Diseases · 2015 · 79 citations · Full text