Výsledky vyhledávání - "Yoriyasu Hasegawa"

A case of Ectopic Ureterocele in which an additional ultrasound technique was needed in its Diagnosis

Autor: Yasushi Deguchi, Kazuya Tashiro, Gotaro Kurasawa, Kazumi Gomibuchi, Kenichi Kawamura, Toshikazu Nagakura, Shinya Iwamuro, Takeshi Okabe, Yoriyasu Hasegawa, Akira Furuta, Takashi Hatano

Publikováno v: Nihon Shoni Jinzobyo Gakkai Zasshi. 9:49-52

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d892c0e92c2528242ecbe6b2a1659f54
https://doi.org/10.3165/jjpn.9.49

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Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy

Autor: Takashi Tsuda, Yoshikatsu Eto, Yoriyasu Hasegawa

Publikováno v: Braindevelopment. 18(5)

Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient with the late-infantile form of metachromatic leukodystrophy (MLD) were identified. One mutation was a G to C transversion at nucleotide 608 of the ASA gene (designated 608

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc59b0762d9649639fc5af6c91491dd
https://pubmed.ncbi.nlm.nih.gov/8891236

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Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing

Autor: Yoshikatsu Eto, Toya Ohashi, Hiroyuki Ida, Hiroshi Kawame, Yoriyasu Hasegawa

Publikováno v: Human genetics. 93(4)

The arylsulfatase A gene of a Japanese patient who has the juvenile form of metachromatic leukodystrophy, and who has been previously reported as a heterozygote of the 1070A mutation, was investigated. Nucleotide sequence analysis revealed the presen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c34df0f5528c55cdb5515e5bf7e480b8
https://pubmed.ncbi.nlm.nih.gov/7909527

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Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease

Autor: Hiroshi Kawame, Yoriyasu Hasegawa, Yoshikatsu Eto, Toy A Ohashi, Hiroyuki Ida, T. Tokoro

Publikováno v: Molecular and cellular biochemistry. 119(1-2)

The characterization of mutations in Japanese patients with lipidosis, particularly in metachromatic leukodystrophy (MLD) and Gaucher disease has been studied in detail. Metachromatic leukodystrophy is characterized by an accumulation of sulfatide in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57d44b67ff747f55e1f495afb56f7bdc
https://pubmed.ncbi.nlm.nih.gov/8455580

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Molecular Characteristics in Japanese Patients with Lipidosis: Novel Mutations in Metachromatic Leukodystrophy and Gaucher Disease

Autor: Yoshikatsu Eto, Hiroshi Kawame, Yoriyasu Hasegawa, Toy A Ohashi, Hiroyuki Ida, Toshiharu Tokoro

Publikováno v: Cellular Function and Metabolism ISBN: 9781461363446

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e2ab364ea0905dad82d2726fde61ff76
https://doi.org/10.1007/978-1-4615-3078-7_24

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Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

Autor: Kihei Maekawa, Hiroshi Kawame, Yoriyasu Hasegawa, Yoshikatsu Eto

Publikováno v: Human Genetics. 90

To detect mutations in the glucocerebrosidase gene in Gaucher disease patients, we used the recently described technique of single-strand conformation polymorphism (SSCP) analysis in combination with selective amplification. We analyzed exon 8, 9, 10

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de59a74f3fb5d4aee8b6b334e7e535b1
https://doi.org/10.1007/bf00220082

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