Taniike Masako | Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine

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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
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
Clinicogenetical features of a Japanese patient with giant axonal neuropathy

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