Article
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Developmental medicine and child neurology - 1 Oct 2017
Vollebregt Audrey A M, Hoogeveen-Westerveld Marianne, Kroos Marian A, Oussoren Esmee, Plug Iris, Ruijter George J, van der Ploeg Ans T, Pijnappel W W M Pim
Abstract excerpt
AIM: Mucopolysaccharidosis type II (MPS II) is caused by variants in the iduronate-2-sulphatase gene (IDS). Patients can be either neuronopathic with intellectual disability, or non-neuronopathic. Few studies have reported on the IDS genotype-phenotype relationship and on the molecular effects involved. We addressed this in a cohort study of Dutch patients with MPS II. METHOD: Intellectual performance was...
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