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[Niemann-Pick disease type C].
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder, but the basic defect has not yet been clarified. Diagnostic biochemical makers are intracellularExpand
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Specificity of radioprotective and cytotoxic effects of cysteamine in HeLa S3 cells: generation of peroxide as the mechanism of paradoxical toxicity.
Cysteamine at 0.5-5 mM effectively kills ${\rm HeLa}\ {\rm S}_{3}$ cells, while it is much less toxic in higher concentration (30 mM). The toxicity develops gradually with time as peroxide generatesExpand
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Dopamine receptor upregulation in Lesch-Nyhan syndrome: a postmortem study.
The brains of two patients with Lesch-Nyhan syndrome (LNS) were studied. The concentration of dopamine was decreased in the caudate nucleus of LNS patients. Immunohistochemical methods revealed thatExpand
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Epilepsy in Peroxisomal Diseases
Summary: Purpose: To clarify the electroclinical manifestation of epileptic seizures and the evolution of epilepsy in patients with peroxisomal diseases.
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A case of Høyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs.
We report the case of a 7-year old girl with Høyeraal-Hreidarsson syndrome (HHS) and review other cases of HHS. In addition to the previously described important signs of HHS, i.e., prenatal growthExpand
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Increased cerebral choline‐compounds in Duchenne muscular dystrophy
WE investigated the hypothesis that cell membrane function is abnormal in brains of subjects with Duchenne muscular dystrophy (DMD) using proton-nuclear magnetic resonance (NMR) spectroscopy of humanExpand
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Radiation protection of mice by mixtures of -mercaptoethylquanidine (MEG) and cysteamine (MEA).
The injection of β-mercaptoethylguanidine bromide hydrobromide (MEG) together with cysteamine hydrochloride (MEA) afforded better protection of mice against Xirradiation than the injection of eitherExpand
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Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.
Bile acid profiles in serum, urine and bile from an infant with a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (D-bifunctional protein)Expand
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Thiation of Oxindoles
The thiation of methyl substituted oxindoles (I) with phosphorous pentasulfide gave the corresponding 2-indolinethiones (II). The 2-indolinethione (II) having more than one hydrogen at 3-position,Expand
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