Search Results - "ARASHIMA, S"

Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics by Ohura, T., Abukawa, D., Shiraishi, H., Yamaguchi, A., Arashima, S., Hiyamuta, S., Tada, K., Iinuma, K.

“…Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a…”
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Inherited copper toxicity in long-evans cinnamon rats exhibiting spontaneous hepatitis : a model of Wilson's disease by OKAYASU, T, TOCHIMARU, H, HYUGA, T, TAKAHASHI, T, TAKEKOSHI, Y, LI, Y, TOGASHI, Y, TAKEICHI, N, KASAI, N, ARASHIMA, S

“…The copper concentrations in organs of developing Long-Evans Cinnamon (LEC) rats (2 d to 13 mo) were measured to elucidate the pathogenesis of their hereditary…”
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Inborn errors of metabolism and nutrition by Arashima, S

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Microassay for screening newborns for galactosemia with use of a fluorometric microplate reader by Yamaguchi, A, Fukushi, M, Mizushima, Y, Shimizu, Y, Takasugi, N, Arashima, S, Ohyanagi, K

“…We describe a microassay for measuring galactose (Gal) and galactose 1-phosphate (Gal-1-P) in dried blood spots. After a coupled enzyme reaction involving…”
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Genetic counseling (author's transl) by Arashima, S

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Fucosidosis and mannosidosis by Arashima, S

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Progeria syndrome and Werner's syndrome by Arashima, S

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Hyperammonemia by Arashima, S

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Urinary glycopeptides of fucosidosis by Yamashita, K, Tachibana, Y, Takada, S, Matsuda, I, Arashima, S, Kobata, A

“…Fucosidosis is unique among congenital exoglycosidase deficiencies, because not only oligosaccharides but large amount of glycopeptides are excreted in the…”
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Diagnosis of biliary atresia by Arashima, S

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Impaired monocyte function in glycogen storage disease type Ib by UENO, N, TOMITA, M, ARIGA, T, OHKAWA, M, NAGANO, S, TAKAHASHI, Y, ARASHIMA, S, MATSUMOTO, S

“…Phagocyte (neutrophil and monocyte) function was evaluated in a boy with glycogen storage disease type Ib. Neutrophils were found to be defective in motility…”
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Cytotoxicity of galactose, tyrosine and methionine in cultured suckling rat hepatocytes: relation to liver immaturity by Okayasu, T, Nagano, S, Takada, K, Tomita, M, Arashima, S, Matsumoto, S

“…Monolayers of suckling rat hepatocytes cultured for 24 hours were treated with galactose, I-tyrosine and I-methionine. The purpose was to study the reasons for…”
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Determination of Triethylenetetramine in Plasma of Patients by High-Performance Liquid Chromatography by MIYAZAKI, Katsumi, KISHINO, Satoshi, KOBAYASHI, Michiya, ARASHIMA, Shin-ichiro, MATSUMOTO, Shuzo, ARITA, Takaichi

“…A sensitive and simple fluorometric method for the determination of N, N'-bis(2-aminoethyl)-1, 2-ethanediamine dihydrochloride (triethylenetetramine) in human…”
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Distribution pattern of lysosomal granules in fibroblasts of the Chediak-Higashi syndrome by Abe, K, Arashima, S, Honma, M

“…Cultured fibroblasts from a patient with the Chediak-Higashi syndrome, the mother of the patient, and a normal control were studied by light and electron…”
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Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan by Tada, K, Tateda, H, Arashima, S, Sakai, K, Kitagawa, T, Aoki, K, Suwa, S, Kawamura, M, Oura, T, Takesada, M

“…A nationwide neonatal screening program for phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria, histidinemia and galactosemia was started…”
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Hereditary connective tissue diseases. Marfan's syndrome by Fujisaku, A, Sagawa, A, Nakagawa, S, Arashima, S

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Reduced activity of otc in the liver of a patient with Reye's syndrome by Arashima, S, Takekoshi, Y, Anakura, M, Nanbu, H, Matsuda, I

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A defective enzyme in hyperphenylalaninaemia due to biopterin deficiency by Yoshioka, S., Masada, M., Yoshida, T., Mizokami, T., Akino, M., Matsuo, N., Tsuchiya, T., Seki, T., Arashima, S., Kawaguchi, M.

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Hyperlipidaemia during persistent peritoneal dialysis by Matsuda, I, Maeda, T, Takase, A, Arashima, S

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Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase by Matsuda, I, Arashima, S, Nambu, H, Takekoshi, Y, Anakura, M

“…In a case of congenital hyperammonemia described in an 8½-month-old girl, elevated blood ammonia was shown to result from a mutant enzyme of ornithine…”
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