Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome

Keyphrases

• Neurocognitive 100%
• Nonsense mutation 100%
• α-L-iduronidase 100%
• Hurler-Scheie Syndrome 100%
• Neuropsychiatric Phenotype 100%
• Physical Symptoms 66%
• Photosystem II 66%
• Mean Group 66%
• Symptom Score 66%
• Attention Memory 66%
• Heparan Sulfate 33%
• Hurler Syndrome 33%
• Psychiatric Disorders 33%
• Cognitive Deficits 33%
• Brain Function 33%
• Brain Structure 33%
• Early childhood 33%
• Lysosomal Disease 33%
• Disease Network 33%
• Hydrocephalus 33%
• Sleep Problems 33%
• Pathologic 33%
• Missense mutation 33%
• Missense 33%
• Clinical Disease 33%
• Targeted Treatment 33%
• Genotype-phenotype 33%
• Group Differences 33%
• Medical History 33%
• Neuropsychological Tests 33%
• Parent Report 33%
• Psychiatric History 33%
• Psychiatric Illness 33%
• Brain Diseases 33%
• Hurler-Scheie 33%
• Late-onset 33%
• Lysosomal Enzymes 33%
• Visuospatial Abilities 33%
• Splicing mutation 33%
• Dermatan Sulfate 33%
• Brain Targeting 33%
• Shunted Hydrocephalus 33%
• Spatial Ability 33%
• Nonsense 33%
• Mild mutation 33%
• Mutation Type 33%
• Ability Score 33%
• Psychological Status 33%
• Adaptive Function 33%
• Related Rates 33%
• Iduronic Acid 33%
• Cord Compression 33%
• Cervical Cord Compression 33%
• History Problem 33%
• Function Status 33%

Neuroscience

• Levo Iduronidase 100%
• Nonsense Mutation 100%
• Hydrocephalus 66%
• Hurler Syndrome 66%
• Cognitive Disorders 33%
• Neuropsychological Test 33%
• Spatial Memory 33%
• Heparan Sulfate 33%
• Longitudinal Study 33%
• Missense Mutation 33%
• Lysosome Enzyme 33%
• Dermatan Sulfate 33%
• Iduronic Acid 33%
• Brain Disease 33%

Biochemistry, Genetics and Molecular Biology

• Iduronidase 100%
• Nonsense Mutation 100%
• Hurler Syndrome 66%
• Genotyping 33%
• Enzymatic Hydrolysis 33%
• Splice Site Mutation 33%
• Missense 33%
• Enzyme 33%
• Allele 33%
• Missense Mutation 33%
• Spatial Memory 33%
• Mucopolysaccharidosis 33%
• Heparan Sulfate 33%
• Dermatan Sulfate 33%
• Iduronic Acid 33%