Coincidental finding of Fabry’s disease in a patient with IgA nephropathy

por Kakita, Tomoko, Nagatoya, Katsuyuki, Mori, Tatsuhiko, Kobayashi, Masahisa, Inoue, Toru
Publicado 2010

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement t...

por Hongo, Kenichi, Harada, Toru, Fukuro, Eiko, Kobayashi, Masahisa, Ohashi, Toya, Eto, Yoshikatsu
Publicado 2020

Frequency of de novo mutations in Japanese patients with Fabry disease

por Kobayashi, Masahisa, Ohashi, Toya, Iizuka, Sayoko, Kaneshiro, Eiko, Higuchi, Takashi, Eto, Yoshikatsu, Ida, Hiroyuki
Publicado 2014

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

por Hayashi, Shion, Yokoi, Takayuki, Hatano, Chihiro, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kobayashi, Masahisa, Ida, Hiroyuki, Kurosawa, Kenji
Publicado 2018

Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally

por Hasegawa, Akihiro, Samura, Osamu, Sato, Taisuke, Matsuoka, Tomona, Ito, Yuki, Kajiwara, Kazuhiro, Aoki, Hiroaki, Inage, Yuka, Kobayashi, Masahisa, Okamoto, Aikou
Publicado 2018

Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

por Sato, Taisuke, Samura, Osamu, Kato, Noriko, Taniguchi, Kosuke, Takahashi, Ken, Ito, Yuki, Aoki, Hiroaki, Kobayashi, Masahisa, Migita, Ohsuke, Okamoto, Aikou, Hata, Kenichiro
Publicado 2018

Experience with enteral sulfonylurea monotherapy for extremely low birth weight infants with hyperglycemia

por Nakagawa, Ai, Hirano, Daishi, Inage, Yuka, Yamada, Saya, Kotake, Yuko, Ikoma, Naohiro, Kumazawa, Kensuke, Hayashi, Shion, Tanabe, Yukitoshi, Kobayashi, Masahisa, Shimizu, Masaki
Publicado 2022

Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy

por Nakano, Sachie, Tsukimura, Takahiro, Togawa, Tadayasu, Ohashi, Toya, Kobayashi, Masahisa, Takayama, Katsuyoshi, Kobayashi, Yukuharu, Abiko, Hiroshi, Satou, Masatsugu, Nakahata, Tohru, Warnock, David G., Sakuraba, Hitoshi, Shibasaki, Futoshi
Publicado 2015

Characteristics of the Electrocardiogram in Japanese Fabry Patients Under Long-Term Enzyme Replacement Therapy

por Morimoto, Satoshi, Nojiri, Ayumi, Fukuro, Eiko, Anan, Ikuko, Kawai, Makoto, Sakurai, Ken, Kobayashi, Masahisa, Kobayashi, Hiroshi, Ida, Hiroyuki, Ohashi, Toya, Shibata, Takahiro, Yoshimura, Michihiro, Eto, Yoshikatsu, Hongo, Kenichi
Publicado 2021

The role of native T1 values on the evaluation of cardiac manifestation in Japanese Fabry disease patients

por Anan, Ikuko, Sakuma, Toru, Fukuro, Eiko, Morimoto, Satoshi, Nojiri, Ayumi, Kawai, Makoto, Sakurai, Ken, Kobayashi, Masahisa, Kobayashi, Hiroshi, Ida, Hiroyuki, Ohashi, Toya, Yoshimura, Michihiro, Eto, Yoshikatsu, Hongo, Kenichi
Publicado 2022