A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation-Reference-Cited by-同舟云学术

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation

Published:2019-09 Issue: Volume:20 Page:100484
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Ahmed Alia,Ou Li,Rudser Kyle,Shapiro Elsa,Eisengart Julie B.,King Kelly,Chen Agnes,Dickson Patricia,Whitley Chester B.

Funder

Lysosomal Disease Network

National Institute of Health (NIH) Rare Diseases Clinical Research Network

NIH Office of Rare Diseases Research at the National Center for Advancing Translational Science

National Institute of Neurological Disorders and Stroke

National Institute of Diabetes and Digestive and Kidney Diseases

National Center for Advancing Translational Sciences

National Institutes of Health

University of Minnesota CTSI

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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4. Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase;Bie;Nat. Chem. Biol.,2013

5. Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome;Ahmed;Mol. Genet. Metab.,2014

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