María Verónica Muñoz‐Rojas

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

L. Clarke, Roberto Giugliani, Nathalie Guffon et al. · Clinical Genetics · 2019 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis

María Verónica Muñoz‐Rojas, Dafne Dain Gandelman Horovitz, Laura Bannach Jardim et al. · Molecular Genetics and Metabolism · 2009 · 63 citations

Life Sciences, Biochemistry, Pathobiology +6

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry‐based cohort study

David Viskochil, Joseph Muenzer, Nathalie Guffon et al. · Developmental Medicine & Child Neurology · 2017 · 36 citations · Full text

Medicine, Neurological Surgery, Neurology +11

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world

María Verónica Muñoz‐Rojas, Luisa Bay, Luz María Sánchez‐Sánchez et al. · Journal of Inherited Metabolic Disease · 2011 · 26 citations · Full text

Life Sciences, Genetics, Pathology +13

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

Ana María Martins, Kristin Lindstrom, Sandra Obikawa Kyosen et al. · BMC Endocrine Disorders · 2018 · 12 citations · Full text

Medicine, Endocrinology, Pediatrics +16