Takeshita Kenzo | Division Of Child Neurological Institute Of Neurology Sciences Faculty Of Medicine Tottori Universit

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著作論文

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
Peroxisomal bifunctional enzyme deficiency: serial neurophysiological examinations of a case
Intracraninal calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report
Sensorineural deafness in siblings with adenosine deaminase deficiency
A Cell Line Derived from Sphingomyelinosis Mouse Shows Alterations in Intracellular Cholesterol Metabolism Similar to Those in Type C Niemann-Pick Disease
IgA and IgG2 Deficiency Associated with Zonisamide Therapy: A Case Report
A functional magnetic resonance imaging study during sentence reading in Japanese dyslexic children
Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan
Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers
Cognitive and neurophysiological evaluation of Japanese dyslexia
Frequency of the Prader-Willi syndrome in the San-in district, Japan
Cellular senescence of angiofibroma stroma cells from patients with tuberous sclerosis
Case of a mentally retarded child with non-24 hour sleep-wake syndrome caused by deficiency of melatonin secretion
Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy
Carbohydrate-deficient glycoprotein syndrome : electrophoretic study of multiple serum glycoproteins
Pontine hypoplasia in a child with sensorineural deafiness
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
Unilateral occlusion of the middle cerebral artery after varicella-zoster virus infection
A patient with cerebral palsy whose mother had a traffic accident during pregnancy : a diffuse axonal injury?
Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
Altered Sensitivities to Potential Inhibitors of Cholesterol Biosynthesis in Niemann-Pick Type C Fibroblasts
A case report of remarkable improvement of motor disturbances with _L-dopa in a patient with post-diffuse axonal injury
Bilateral opercular syndrome: an unusyal complication of perinatal difficulties

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