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Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of &#945;-<span style="font-variant: small-caps;">l</span>-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classic...

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Principais autores: Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, Roberto Giugliani
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2020-03-01
Serier:Diagnostics
Fag:
mucopolysaccharidosis type i
hurler syndrome
hurler–scheie syndrome
scheie syndrome
glycosaminoglycans
enzyme replacement therapy
hematopoietic stem cell transplantation
Online adgang:https://www.mdpi.com/2075-4418/10/3/161
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