研究成果

2020
公開

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

Kishita, Y., Shimura, M., Kohda, M., Akita, M., Imai-Okazaki, A., Yatsuka, Y., Nakajima, Y., Ito, T., Ohtake, A., Murayama, K. & Okazaki, Y., 2020, (Accepted/In press) : : Molecular genetics & genomic medicine.

研究成果: Article

公開

Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome

Niitsuma, S., Kudo, H., Kikuchi, A., Hayashi, T., Kumakura, S., Kobayashi, S., Okuyama, Y., Kumagai, N., Niihori, T., Aoki, Y., So, T., Funayama, R., Nakayama, K., Shirota, M., Kondo, S., Kagami, S., Tsukaguchi, H., Iijima, K., Kure, S. & Ishii, N., 01-04-2020, : : International Immunology. 32, 4, p. 283-292 10 p.

研究成果: Article

Changes in passively-sensitized basophil activation to αS1-casein after oral immunotherapy

Matsui, T., Naito, M., Tagami, K., Tajima, I., Teshigawara, M., Makino, A., Kitamura, K., Takasato, Y., Sugiura, S., Yamada, C., Izumi, H., Tsuge, I., Kondo, Y. & Ito, K., 01-06-2020, : : Immunity, Inflammation and Disease. 8, 2, p. 188-197 10 p.

研究成果: Article

公開

Changes in the characteristics of patients with latex allergy from 1999 to 2014

Kawai, M., Kondo, Y., Nakajima, Y., Tsuge, I., Yoshikawa, T., Yagami, A., Aihara, M., Ikezawa, Z., Ohya, Y., Kitabayashi, T., Saito, H., Shibata, R., Naito, T., Harada, S., Hide, M., Matsunaga, K., Miyasaka, K. & Akasawa, A., 2020, : : Fujita medical journal. 6, 3, p. 67-72 6 p.

研究成果: Article

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism

Tanaka, T., Aoyama, K., Suzuki, A., Saitoh, S. & Mizuno, H., 02-06-2020, : : Journal of Pediatric Endocrinology and Metabolism. 33, 6, p. 691-701 11 p.

研究成果: Article

Conditioning regimen for allogeneic bone marrow transplantation in children with acquired bone marrow failure: fludarabine/melphalan vs. fludarabine/cyclophosphamide

on behalf of the Pediatric Aplastic Anemia Working Group of the Japan Society for Hematopoietic Cell Transplantation, 2020, (Accepted/In press) : : Bone Marrow Transplantation.

研究成果: Article

Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia (Genetics in Medicine, (2019), 21, 6, (1286-1294), 10.1038/s41436-018-0340-x)

Wada, Y., Kikuchi, A., Arai-Ichinoi, N., Sakamoto, O., Takezawa, Y., Iwasawa, S., Niihori, T., Nyuzuki, H., Nakajima, Y., Ogawa, E., Ishige, M., Hirai, H., Sasai, H., Fujiki, R., Shirota, M., Funayama, R., Yamamoto, M., Ito, T., Ohara, O., Nakayama, K. および4人, Aoki, Y., Koshiba, S., Fukao, T. & Kure, S., 01-07-2020, : : Genetics in Medicine. 22, 7, p. 1281 1 p.

研究成果: Comment/debate

公開

Efficacy and safety of valganciclovir in patients with symptomatic congenital cytomegalovirus disease: Study Protocol Clinical Trial (SPIRIT Compliant)

Morioka, I., Kakei, Y., Omori, T., Nozu, K., Fujioka, K., Yoshikawa, T., Moriuchi, H., Ito, Y. & Oka, A., 01-04-2020, : : Medicine. 99, 17, p. e19765

研究成果: Article

公開

Evaluation of perinatal autonomic development in infants using the QT/RR variability ratio

Mizutani, Y., Kojima, A., Takeuchi, Y., Kusuki, H., Sugimoto, K., Osakabe, K., Ichino, N., Fujino, M., Saito, K., Miyata, M., Sadanaga, T. & Hata, T., 2020, : : Fujita medical journal. 6, 1, p. 17-20 4 p.

研究成果: Article

2 引用 (Scopus)

Full genome characterization of novel DS-1like G9P[8] rotavirus strains that have emerged in Thailand

Fukuda, S., Tacharoenmuang, R., Guntapong, R., Upachai, S., Singchai, P., Ide, T., Hatazawa, R., Sutthiwarakom, K., Kongjorn, S., Onvimala, N., Ruchusatsawast, K., Rungnopakun, P., Mekmallika, J., Kawamura, Y., Motomura, K., Tatsumi, M., Takeda, N., Murata, T., Yoshikawa, T., Uppapong, B. および2人, Taniguchi, K. & Komoto, S., 04-2020, : : PloS one. 15, 4, e0231099.

研究成果: Article

公開
1 引用 (Scopus)

Hematopoietic stem cell transplantation for pediatric acute promyelocytic leukemia in Japan

Yamamoto, S., Tomizawa, D., Kudo, K., Hasegawa, D., Taga, T., Yanada, M., Kondo, T., Nakazawa, Y., Eto, T., Inoue, M., Kato, K., Atsuta, Y. & Ishida, H., 01-05-2020, : : Pediatric Blood and Cancer. 67, 5, e28181.

研究成果: Article

High prevalence of equine-like G3P[8] rotavirus in children and adults with acute gastroenteritis in Thailand

Tacharoenmuang, R., Komoto, S., Guntapong, R., Upachai, S., Singchai, P., Ide, T., Fukuda, S., Ruchusatsawast, K., Sriwantana, B., Tatsumi, M., Motomura, K., Takeda, N., Murata, T., Sangkitporn, S., Taniguchi, K. & Yoshikawa, T., 01-02-2020, : : Journal of Medical Virology. 92, 2, p. 174-186 13 p.

研究成果: Article

6 引用 (Scopus)

HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout

Mishima, E., Mori, T., Nakajima, Y., Toyohara, T., Kikuchi, K., Oikawa, Y., Matsuhashi, T., Maeda, Y., Suzuki, T., Kudo, M., Ito, S., Sohara, E., Uchida, S. & Abe, T., 01-08-2020, : : CEN case reports. 9, 3, p. 210-214 5 p.

研究成果: Article

1 引用 (Scopus)

Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer

Yokoi, K., Nakajima, Y., Matsuoka, H., Shinkai, Y., Ishihara, T., Maeda, Y., Kato, T., Katsuno, H., Masumori, K., Kawada, K., Yoshikawa, T., Ito, T. & Kurahashi, H., 2020, (Accepted/In press) : : Cancer science.

研究成果: Article

公開

Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency

Inoue, K., Miura, H., Hoshino, A., Kamiya, T., Tanita, K., Ohye, T., Park, M. J., Yanagimachi, M., Takagi, M., Imai, K., Morio, T., Yoshikawa, T. & Kanegane, H., 2020, (Accepted/In press) : : Transplant Infectious Disease.

研究成果: Article

Japanese guidelines for childhood asthma 2020

Arakawa, H., Adachi, Y., Ebisawa, M., Fujisawa, T., Ebisaw, M., Akasawa, A., Inoue, T., Ohya, Y., Kameda, M., Kurihara, K., Shimojo, N., Suehiro, Y., Mochizuki, H., Yoshihara, S., Iwanaga, T., Kuroki, H., Takase, M., Masuko, I., Hirai, K., Yoshida, K. および38人, Inoue, Y., Nagao, M., Miyaji, Y., Iio, M., Ito, Y., Takizawa, T., Futamura, M., Tezuka, J., Fukuda, H., Yoshida, Y., Nishimoto, H., Fukuie, T., Sato, S., Yamada, Y., Okafuji, I., Yamamoto-Hanada, K., Sasaki, M., Tanaka, Y., Nakajima, Y., Isozaki, A., Inage, E., Yagi, H., Shimizu, M., Akashi, K., Kawamoto, N., Manabe, T., Murai, H., Takaoka, Y., Miura, T., Hiraguchi, Y., Sugiyama, T., Sugimoto, M., Suzuki, S., Natsume, O., Kitazawa, H., Yamaide, A., Wada, T. & Nishima, S., 07-2020, : : Allergology International. 69, 3, p. 314-330 17 p.

研究成果: Review article

公開
1 引用 (Scopus)

Japanese guidelines for food allergy 2020

Committee for Japanese Pediatric Guideline for Food Allergy, The Japanese Society of Pediatric Allergy and Clinical Immunology, Members, Collaborators & The Japanese Society of Allergology, 2020, (Accepted/In press) : : Allergology International.

研究成果: Review article

公開
1 引用 (Scopus)

Lacosamide for children with paroxysmal kinesigenic dyskinesia

Furukawa, G., Negishi, Y., Takeuchi, T., Ishihara, N. & Okumura, A., 09-2020, : : Brain and Development. 42, 8, p. 617-620 4 p.

研究成果: Article

1 引用 (Scopus)

Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome

Natsume, J., Ishihara, N., Azuma, Y., Nakata, T., Takeuchi, T., Tanaka, M., Sakaguchi, Y., Okai, Y., Ito, Y., Yamamoto, H., Ohno, A., Kidokoro, H., Hattori, A., Nabatame, S. & Kato, K., 2020, (Accepted/In press) : : Brain and Development.

研究成果: Article

Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan

Histiocytosis Study Group of the Japanese Society of Pediatric Hematology/Oncology, 01-07-2020, : : Pediatric Blood and Cancer. 67, 7, e28381.

研究成果: Article

1 引用 (Scopus)
公開

Nationwide retrospective review of hematopoietic stem cell transplantation in children with refractory Langerhans cell histiocytosis

The Histiocytosis study group of the Japanese Society of Pediatric Hematology/Oncology, 01-01-2020, : : International Journal of Hematology. 111, 1, p. 137-148 12 p.

研究成果: Article

1 引用 (Scopus)

QT Variability Index is Correlated with Autonomic Nerve Activity in Healthy Children

Kusuki, H., Tsuchiya, Y., Mizutani, Y., Nishio, M., Oikawa, S., Nagata, R., Kiriyanagi, Y., Horio, K., Kojima, A., Uchida, H., Kojima, N., Saito, K., Sadanaga, T. & Hata, T., 2020, (Accepted/In press) : : Pediatric Cardiology.

研究成果: Article

公開

Respiratory illness and acute flaccid myelitis in the Tokai district in 2018

Okumura, A., Numoto, S., Iwayama, H., Kurahashi, H., Natsume, J., Saitoh, S., Yoshikawa, T., Fukao, T., Hirayama, M. & Takahashi, Y., 01-03-2020, : : Pediatrics International. 62, 3, p. 337-340 4 p.

研究成果: Article

Splenial Lesions in Benign Convulsions With Gastroenteritis Associated With Rotavirus Infection

Ogawa, C., Kidokoro, H., Ishihara, N., Tsuji, T., Kurahashi, H., Hattori, A., Suzuki, M., Ogaya, S., Ito, Y., Fukasawa, T., Kubota, T., Okumura, A., Saitoh, S. & Natsume, J., 08-2020, : : Pediatric Neurology. 109, p. 79-84 6 p.

研究成果: Article

Three Adolescents with Primary Human Herpesvirus 7 Infection during a Measles Outbreak

Kono, T., Hattori, F., Kawamura, Y., Miura, H., Sudo, Y., Suzuki, M. & Yoshikawa, T., 2020, (Accepted/In press) : : Pediatric Infectious Disease Journal. p. E209-E211

研究成果: Article

2019

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Tsuchiya, H., Akiyama, T., Kuhara, T., Nakajima, Y., Ohse, M., Kurahashi, H., Kato, T., Maeda, Y., Yoshinaga, H. & Kobayashi, K., 03-2019, : : Brain and Development. 41, 3, p. 280-284 5 p.

研究成果: Article

1 引用 (Scopus)
3 引用 (Scopus)

Allergy and anaphylactic reaction to loquat (Eriobotrya japonica) are induced by a bet v 1 homolog

Takaoka, Y., Kondo, Y., Matsunaga, K., Aoki, Y., Hasegawa, E., Tokuda, R., Fujisawa, T., Morikawa, A. & Doi, S., 2019, : : Journal of Investigational Allergology and Clinical Immunology. 29, 5, p. 382-383 2 p.

研究成果: Article

公開
公開
1 引用 (Scopus)

Analysis of allergens in corn-dependent exercise-induced anaphylaxis

Nakamura, H., Nakamura, M., Shimizu, N., Matsunaga, K. & Kondo, Y., 07-2019, : : Annals of Allergy, Asthma and Immunology. 123, 1, p. 103-105 3 p.

研究成果: Article

1 引用 (Scopus)

Anaphylaxis to xylitol diagnosed by skin prick test and basophil activation test

Okamoto, K., Kagami, M., Kawai, M., Mori, Y., Yamawaki, K., Nakajima, Y., Kondo, Y. & Tsuge, I., 01-2019, : : Allergology International. 68, 1, p. 130-131 2 p.

研究成果: Letter

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Wada, Y., Kikuchi, A., Arai-Ichinoi, N., Sakamoto, O., Takezawa, Y., Iwasawa, S., Niihori, T., Nyuzuki, H., Nakajima, Y., Ogawa, E., Ishige, M., Hirai, H., Sasai, H., Fujiki, R., Shirota, M., Funayama, R., Yamamoto, M., Ito, T., Ohara, O., Nakayama, K. および4人, Aoki, Y., Koshiba, S., Fukao, T. & Kure, S., 01-06-2019, : : Genetics in Medicine. 21, 6, p. 1286-1294 9 p.

研究成果: Article

10 引用 (Scopus)

Bortezomib Eliminates Plasma Cells From a Renal Graft in Plasma Cell–Rich Acute Rejection

Tasaki, M., Saito, K., Nakagawa, Y., Ikeda, M., Imai, N., Ito, Y., Sudo, M., Ikezumi, Y., Yamada, T., Hasegawa, H., Kobayashi, T., Miura, K., Narita, I., Takahashi, K. & Tomita, Y., 01-07-2019, : : Transplantation Proceedings. 51, 6, p. 1732-1738 7 p.

研究成果: Article

2 引用 (Scopus)

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

Yokoi, K., Nakajima, Y., Shinkai, Y., Sano, Y., Imamura, M., Akiyama, T., Yoshikawa, T., Ito, T. & Kurahashi, H., 12-2019, : : Molecular Genetics and Metabolism Reports. 21, 100515.

研究成果: Article

公開

Clinical effects of recombinant thrombomodulin and defibrotide on sinusoidal obstruction syndrome after allogeneic hematopoietic stem cell transplantation

Yakushijin, K., Ikezoe, T., Ohwada, C., Kudo, K., Okamura, H., Goto, H., Yabe, H., Yasumoto, A., Kuwabara, H., Fujii, S., Kagawa, K., Ogata, M., Onishi, Y., Kohno, A., Watamoto, K., Uoshima, N., Nakamura, D., Ota, S., Ueda, Y., Oyake, T. および9人, Koike, K., Mizuno, I., Iida, H., Katayama, Y., Ago, H., Kato, K., Okamura, A., Kikuta, A. & Fukuda, T., 01-05-2019, : : Bone Marrow Transplantation. 54, 5, p. 674-680 7 p.

研究成果: Article

2 引用 (Scopus)

Comparison of conditioning regimens for autologous stem cell transplantation in children with acute myeloid leukemia: A nationwide retrospective study in Japan

on behalf of the Pediatric AML Working Group of the Japan Society for Hematopoietic Cell Transplantation, 01-2019, : : Pediatric Blood and Cancer. 66, 1, e27459.

研究成果: Article

3 引用 (Scopus)

Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7

Ishii, J., Suzuki, A., Kimura, T., Tateyama, M., Tanaka, T., Yazawa, T., Arimasu, Y., Chen, I. S., Aoyama, K., Kubo, Y., Saitoh, S., Mizuno, H. & Kamma, H., 01-12-2019, : : Communications biology. 2, 1, 270.

研究成果: Article

公開
5 引用 (Scopus)

Correction to: Defective Epstein–Barr virus in chronic active infection and haematological malignancy (Nature Microbiology, (2019), 4, 3, (404-413), 10.1038/s41564-018-0334-0)

Okuno, Y., Murata, T., Sato, Y., Muramatsu, H., Ito, Y., Watanabe, T., Okuno, T., Murakami, N., Yoshida, K., Sawada, A., Inoue, M., Kawa, K., Seto, M., Ohshima, K., Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Narita, Y., Yoshida, M. および18人, Goshima, F., Kawada, J. I., Nishida, T., Kiyoi, H., Kato, S., Nakamura, S., Morishima, S., Yoshikawa, T., Fujiwara, S., Shimizu, N., Isobe, Y., Noguchi, M., Kikuta, A., Iwatsuki, K., Takahashi, Y., Kojima, S., Ogawa, S. & Kimura, H., 01-03-2019, : : Nature Microbiology. 4, 3, p. 544 1 p.

研究成果: Comment/debate

公開
2 引用 (Scopus)

Defective Epstein–Barr virus in chronic active infection and haematological malignancy

Okuno, Y., Murata, T., Sato, Y., Muramatsu, H., Ito, Y., Watanabe, T., Okuno, T., Murakami, N., Yoshida, K., Sawada, A., Inoue, M., Kawa, K., Seto, M., Ohshima, K., Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Narita, Y., Yoshida, M. および18人, Goshima, F., Kawada, J. I., Nishida, T., Kiyoi, H., Kato, S., Nakamura, S., Morishima, S., Yoshikawa, T., Fujiwara, S., Shimizu, N., Isobe, Y., Noguchi, M., Kikuta, A., Iwatsuki, K., Takahashi, Y., Kojima, S., Ogawa, S. & Kimura, H., 01-03-2019, : : Nature Microbiology. 4, 3, p. 404-413 10 p.

研究成果: Letter

26 引用 (Scopus)