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The clinical spectrum of α-L-iduronidase deficiency

✍ Scribed by Roubicek, M. ;Gehler, J. ;Spranger, J. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
660 KB
Volume
20
Category
Article
ISSN
0148-7299

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The a-L-iduronidase deficiency diseases (Mucopolysaccharidosis I) cover a spectrum of clinical severity ranging from the very severe (Hurler syndrome, MPS I H ) through an intermediate (HurleriScheie syndrome, MPS IWS) to a relatively mild form (Scheie syndrome, MPS IS). Numerous mutations of the ge