Toshiyuki Fukao - Publications, H-index & Citations

Toshiyuki Fukao

Gifu University

50H指数

507论文数

9.2K被引数

收录论文 115

发表时间

The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-05-01

OAAI

Osawa, Yoshimitsu; Kobayashi, Hironori; Tajima, Go; Hara, Keiichi; Yamada, Kenji; Fukuda, Seiji; Hasegawa, Yuki; Aisaki, Junko; Yuasa, Miori; Hata, Ikue; Okada, Satoshi; Shigematsu, Yosuke; Sasai, Hideo; Fukao, Toshiyuki; Takizawa, Takumi; Yamaguchi, Seiji; Taketani, Takeshi

Biallelic GALM pathogenic variants cause a novel type of galactosemia (vol 21, pg 333, 2019)

GENETICS IN MEDICINE

IF6.2

2020-07-01

OAAI

Wada, Yoichi; Kikuchi, Atsuo; Arai-Ichinoi, Natsuko; Sakamoto, Osamu; Takezawa, Yusuke; Iwasawa, Shinya; Niihori, Tetsuya; Nyuzuki, Hiromi; Nakajima, Yoko; Ogawa, Erika; Ishige, Mika; Hirai, Hiroki; Sasai, Hideo; Fujiki, Ryoji; Shirota, Matsuyuki; Funayama, Ryo; Yamamoto, Masayuki; Ito, Tetsuya; Ohara, Osamu; Nakayama, Keiko; Aoki, Yoko; Koshiba, Seizo; Fukao, Toshiyuki; Kure, Shigeo

the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation (vol 37, pg 158, 2020)

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2020-05-04

OAAI

Moriya, Kunihiko; Kadowaki, Saori; Nakano, Tomohiro; Akarcan, Sanem E.; Kutukculer, Necil; Aksu, Guzide; Sasahara, Yoji; Kure, Shigeo; Ohnishi, Hidenori; Casanova, Jean-Laurent; Puel, Anne; Fukao, Toshiyuki

The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2020-03-17

PREAI

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis

DIAGNOSTICS

IF3.3

2020-02-16

OAAI

Orii, Kenji; Suzuki, Yasuyuki; Tomatsu, Shunji; Orii, Tadao; Fukao, Toshiyuki

Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-01

PREAI

Tomatsu, Shunji; Kubaski, Francyne; Stapleton, Molly; Suzuki, Yasuyuki; Orii, Kenji; Fukao, Toshiyuki

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

DIAGNOSTICS

IF3.3

2020-01-16

OAAI

Suzuki, Yasuyuki; Taylor, Madeleine; Orii, Kenji; Fukao, Toshiyuki; Orii, Tadao; Tomatsu, Shunji

Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II

DIAGNOSTICS

IF3.3

2019-12-17

OAAI

Orii, Kenji; Lim, Alaena; Tomatsu, Shunji; Stapleton, Molly; Suzuki, Yasuyuki; Simonaro, Calogera M.; Schuchman, Edward H.; Fukao, Toshiyuki; Matsumoto, Tadashi

Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis 卡波西氏淋巴管瘤病患者无细胞DNA生物体液中NRAS突变的检测

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-09-11

OAAI

Ozeki, Michio; Aoki, Yoko; Nozawa, Akifumi; Yasue, Shiho; Endo, Saori; Hori, Yumiko; Matsuoka, Kentaro; Niihori, Tetsuya; Funayama, Ryo; Shirota, Matsuyuki; Nakayama, Keiko; Fukao, Toshiyuki

Oral immunotherapy with antigenicity-modified casein induces desensitization in cow's milk allergy

ALLERGY

IF12

2019-07-22

OAAI

Kawamoto, Norio; Kaneko, Hideo; Kawamoto, Minako; Ohnishi, Hidenori; Matsui, Eiko; Teramoto, Takahide; Kato, Zenichiro; Fukao, Toshiyuki; Ueno, Hiroshi M.; Nakano, Taku; Kondo, Naomi

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

HUMAN MUTATION

IF3.7

2019-07-03

OAAI

Abdelkreem, Elsayed; Harijan, Rajesh K.; Yamaguchi, Seiji; Wierenga, Rikkert K.; Fukao, Toshiyuki

The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-06-13

OAAI

Ozeki, Michio; Nozawa, Akifumi; Yasue, Shiho; Endo, Saori; Asada, Ryuta; Hashimoto, Hiroya; Fukao, Toshiyuki

Biallelic GALM pathogenic variants cause a novel type of galactosemia

GENETICS IN MEDICINE

IF6.2

2019-06-01

OAAI

Efficacy and safety of sirolimus treatment for intractable lymphatic anomalies: A study protocol for an open-label, single-arm, multicenter, prospective study (SILA)

REGENERATIVE THERAPY

IF3.5

2019-06-01

OAAI

Ozeki, Michio; Asada, Ryuta; Saito, Akiko M.; Hashimoto, Hiroya; Fujimura, Takumi; Kuroda, Tatsuo; Ueno, Shigeru; Watanabe, Shoji; Nosaka, Shunsuke; Miyasaka, Mikiko; Umezawa, Akihiro; Matsuoka, Kentaro; Maekawa, Takanobu; Yamada, Yohei; Fujino, Akihiro; Hirakawa, Satoshi; Furukawa, Taizo; Tajiri, Tatsuro; Kinoshita, Yoshiaki; Souzaki, Ryota; Fukao, Toshiyuki

An innate interaction between IL-18 and the propeptide that inactivates its precursor form

SCIENTIFIC REPORTS

IF3.9

2019-04-16

OAAI

Tsutsumi, Naotaka; Yokota, Ayumi; Kimura, Takeshi; Kato, Zenichiro; Fukao, Toshiyuki; Shirakawa, Masahiro; Ohnishi, Hidenori; Tochio, Hidehito

Critical review of current MPS guidelines and management

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-03-01

PREAI

Stapleton, Molly; Hoshina, Hiroo; Sawamoto, Kazuki; Kubaski, Francyne; Mason, Robert W.; Mackenzie, William G.; Theroux, Mary; Kobayashi, Hironori; Yamaguchi, Seiji; Suzuki, Yasuyuki; Fukao, Toshiyuki; Tadao, Orii; Ida, Hiroyuki; Tomatsu, Shunji

Safety evaluation of pentosan polysulfate for treatment of two Japanese siblings with mucopolysaccharidosis type VI in a phase 2 study

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-02-01

PREAI

Furujo, Mahoko; Orii, Kenji; Tomatsu, Shunji; Suzuki, Yasuyuki; Fukao, Toshiyuki

The peroxisomal zebrafish SCP2-thiolase (type-1) is a weak transient dimer as revealed by crystal structures and native mass spectrometry

BIOCHEMICAL JOURNAL

IF4.3

2019-01-25

OAAI

Kiema, Tiila-Riikka; Thapa, Chandan J.; Laitaoja, Mikko; Schmitz, Werner; Maksimainen, Mirko M.; Fukao, Toshiyuki; Rouvinen, Juha; Janis, Janne; Wierenga, Rik K.

Prospective Cohort Study for Identification of Underlying Genetic Causes in Neonatal Encephalopathy Using Whole-Exome Sequencing EDITORIAL COMMENT

OBSTETRICAL & GYNECOLOGICAL SURVEY

IF3.6

2018-10-01

PREAI

Bruun, Theodora U. J.; DesRoches, Caro-Lyne; Wilson, Diane; Chau, Vann; Nakagawa, Tadashi; Yamasaki, Masahiro; Hasegawa, Shinya; Fukao, Toshiyuki; Marshall, Christian; Mercimek-Andrews, Saadet

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-09-01

OAAI

Khan, Shaukat A.; Mason, Robert W.; Giugliani, Roberto; Orii, Kenji; Fukao, Toshiyuki; Suzuki, Yasuyuki; Yamaguchi, Seiji; Kobayashi, Hironori; Orii, Tadao; Tomatsu, Shunji

研究方向