Taniike Masako | Department of Child Development, United Graduate School of Child Development, Osaka University

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著作論文

Sleep disordered breathing in childhood-onset acid maltase deficiency
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease
Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
A Patient with Sotos Syndrome Who Reached Final Height
A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments
CORRELATION OF SUBCELLULAR LOCALIZATION OF DISEASE-SPECIFIC INCLUSIONS AND SPHINGOLIPID ACTIVATOR PROTEIN-1(SAP-1)IN SULFATIDE SULFATASE-DEFICIENT FIBROBLASTS
Localization of SAP-1 in fibroblasts of metachromatic leukodystrophy
Assessment of executive function using the Behavior Rating Inventory of Executive Function (BRIEF) and the Cambridge Neuropsychological Test Automated Battery (CANTAB) in young children with attention deficit/hyperactivity disorder, inattention type
Clinicogenetical features of a Japanese patient with giant axonal neuropathy
Altered microstructural connectivity of the arcuate fasciculus is related to language disability in children with autism spectrum disorder

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