Norberto Guelbert

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 · 148 citations · Full text

Medicine, Physiology, Exercise Testing +15

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Melissa Wasserstein, Robin Lachmann, Carla E. M. Hollak et al. · Genetics in Medicine · 2022 · 99 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +13

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 · 81 citations · Full text

Medicine, Endocrinology, Pediatrics +14

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Christian J. Hendriksz, Rossella Parini, Moeenaldeen AlSayed et al. · Molecular Genetics and Metabolism · 2016 · 69 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +14

Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

Romina Kohan, María Noelia Carabelos, Winnie Xin et al. · Gene · 2012 · 52 citations · Full text

Medicine, Neurology, Pathology +4