Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I

Abstract Background Mucopolysaccharidosis type I (MPS I), is an autosomal recessive disorder caused by a deficiency in the enzyme α-L-iduronidase (IDUA), leading to the accumulation of glycosaminoglycans (GAGs) in tissues. Early diagnosis and treatment [i.e., bone marrow transplantation and/or enzym...

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主要な著者:	Nathalie Guffon, Magali Pettazzoni, Nicolas Pangaud, Nathalie Reynes, Eliane Le Peillet Feuillet, Pierre Journeau, Alain Fouilhoux
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2025-12-01
シリーズ:	Orphanet Journal of Rare Diseases
主題:	MPS I Mucopolysaccharidosis type I Laronidase Attenuated MPS I Severe MPS I Enzyme replacement therapy
オンライン･アクセス:	https://doi.org/10.1186/s13023-025-04157-6
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