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Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters

Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation...

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Bibliografiska uppgifter
I publikationen:Radiol Case Rep
Huvudupphovsmän: Anand, Reena, Bhatia, Deepak, Yadav, D.S
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2015
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4899867/
https://ncbi.nlm.nih.gov/pubmed/27326280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2484/rcr.v7i2.641
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