Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome

Abstract Background Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standardly treated with hematopoietic cell transplantation (HCT), which halts...

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Bibliographic Details
Main Authors: Elsa G. Shapiro, Chester B. Whitley, Julie B. Eisengart
Format: Article
Language:English
Published: BMC 2018-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mucopolysaccharidosis type I
Developmental quotient
Neurodegenerative disease
Age equivalent
Cognitive decline
Newborn screening
Online Access:http://link.springer.com/article/10.1186/s13023-018-0817-3

Internet

http://link.springer.com/article/10.1186/s13023-018-0817-3

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