Caso contributivo
Sindrome di Morquio e sferocitosi ereditaria
Morquio syndrome: management and treatment from a case report
Simone Maria Calogero Gramaglia, Mariaserena Lo Presti, Carmelina Casą, Giuseppe Gramaglia
UO di Pediatria, Ospedale di Agrigento
Dicembre 2020 | DOI: 10.53126/MEBXXIII248
Abstract
Metabolic diseases are rare genetic conditions in the paediatric age. The diagnostic process is often complex and the diagnosis comes even years after the onset of symptoms. The article presents the only documented case of Morquio syndrome and hereditary spherocytosis managed in a second-level Centre using enzyme replacement therapy.
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