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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics

Journal of inherited metabolic disease, 1999-02, Vol.22 (1), p.74-80

1999

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Inherited copper toxicity in long-evans cinnamon rats exhibiting spontaneous hepatitis : a model of Wilson's disease

Pediatric research, 1992-03, Vol.31 (3), p.253-257

1992

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Inborn errors of metabolism and nutrition

[Hokkaido igaku zasshi] The Hokkaido journal of medical science, 1983-07, Vol.58 (4), p.350

Arashima, S

1983

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Genetic counseling (author's transl)

[Hokkaido igaku zasshi] The Hokkaido journal of medical science, 1978-11, Vol.53 (6), p.453

Arashima, S

1978

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Hyperammonemia

Nihon rinshō, 1978-05, Vol.Suppl, p.1352

Arashima, S

1978

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Fucosidosis and mannosidosis

Nihon rinshō, 1978-05, Vol.Suppl, p.1404

Arashima, S

1978

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Progeria syndrome and Werner's syndrome

Nihon rinshō, 1978-05, Vol.Suppl, p.1472

Arashima, S

1978

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Diagnosis of biliary atresia

[Hokkaido igaku zasshi] The Hokkaido journal of medical science, 1975-09, Vol.50 (5), p.454

Arashima, S

1975

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Microassay for screening newborns for galactosemia with use of a fluorometric microplate reader

Clinical chemistry (Baltimore, Md.), 1989-09, Vol.35 (9), p.1962-1964

1989

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Urinary glycopeptides of fucosidosis

The Journal of biological chemistry, 1979-06, Vol.254 (11), p.4820-4827

1979

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Determination of Triethylenetetramine in Plasma of Patients by High-Performance Liquid Chromatography

Chemical and Pharmaceutical Bulletin, 1990/04/25, Vol.38(4), pp.1035-1038

1990

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Impaired monocyte function in glycogen storage disease type Ib

European journal of pediatrics, 1986-09, Vol.145 (4), p.312-313

1986

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Cytotoxicity of Galactose, Tyrosine and Methionine in Cultured Suckling Rat Hepatocytes: Relation to Liver Immaturity

Acta Paediatrica, 1989-11, Vol.78 (6), p.930-934

1989

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Distribution pattern of lysosomal granules in fibroblasts of the Chediak-Higashi syndrome

Journal of clinical pathology, 1982-05, Vol.35 (5), p.496-501

1982

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Mass screening for Wilson's disease: Results and recommendations

Pediatrics international, 1999-08, Vol.41 (4), p.405-408

1999

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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

European journal of pediatrics, 1984-08, Vol.142 (3), p.204-207

1984

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Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population

Human mutation, 1998, Vol.11 (S1), p.S320-S322

1998

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Hereditary connective tissue diseases. Marfan's syndrome

Nihon rinshō, 1984-05, Vol.42 (5), p.1115

1984

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Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population

Human mutation, 1998, Vol.Suppl 1, p.S320-S322

1998

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Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase

Pediatrics (Evanston), 1971-10, Vol.48 (4), p.595-600

1971

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Reduced activity of otc in the liver of a patient with Reye's syndrome

Advances in experimental medicine and biology, 1982, Vol.153, p.163

1982

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Mutation in a Putative Glycosylation Site (N489T) of Biotinidase in the Only Known Japanese Child with Biotinidase Deficiency

Molecular genetics and metabolism, 1998-06, Vol.64 (2), p.152-154

1998

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Digestion of Asparagine-Linked Oligosaccharides by Endo-β-N-Acetylglucosaminidase in the Human Skin Fibroblasts Obtained from Fucosidosis Patients

Journal of biochemistry (Tokyo), 1981-01, Vol.90 (5), p.1291-1296

1981

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A defective enzyme in hyperphenylalaninaemia due to biopterin deficiency

Journal of inherited metabolic disease, 1983, Vol.6 (3), p.127-128

1983

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Hyperlipidaemia during persistent peritoneal dialysis

Archives of disease in childhood, 1972-02, Vol.47 (251), p.139-140

1972

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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics

Inherited copper toxicity in long-evans cinnamon rats exhibiting spontaneous hepatitis : a model of Wilson's disease

Inborn errors of metabolism and nutrition

Genetic counseling (author's transl)

Hyperammonemia

Fucosidosis and mannosidosis

Progeria syndrome and Werner's syndrome

Diagnosis of biliary atresia

Microassay for screening newborns for galactosemia with use of a fluorometric microplate reader

Urinary glycopeptides of fucosidosis

Determination of Triethylenetetramine in Plasma of Patients by High-Performance Liquid Chromatography

Impaired monocyte function in glycogen storage disease type Ib

Cytotoxicity of Galactose, Tyrosine and Methionine in Cultured Suckling Rat Hepatocytes: Relation to Liver Immaturity

Distribution pattern of lysosomal granules in fibroblasts of the Chediak-Higashi syndrome

Mass screening for Wilson's disease: Results and recommendations

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

Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population

Hereditary connective tissue diseases. Marfan's syndrome

Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population

Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase

Reduced activity of otc in the liver of a patient with Reye's syndrome

Mutation in a Putative Glycosylation Site (N489T) of Biotinidase in the Only Known Japanese Child with Biotinidase Deficiency

Digestion of Asparagine-Linked Oligosaccharides by Endo-β-N-Acetylglucosaminidase in the Human Skin Fibroblasts Obtained from Fucosidosis Patients

A defective enzyme in hyperphenylalaninaemia due to biopterin deficiency

Hyperlipidaemia during persistent peritoneal dialysis

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