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Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia

Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence...

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Dettagli Bibliografici
Pubblicato in:BMJ Case Rep
Autori principali: Biswas, Sugata Narayan, Patra, Shinjan, Chakraborty, Partha Pratim, Barman, Himanshu
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5665360/
https://ncbi.nlm.nih.gov/pubmed/29054894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-221156
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