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1 . Academic Journal
Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
저자
by
Saori Katayama
;
Tomohiro Nakano
;
Tasuku Suzuki
;
Masahiro Irie
;
Hidetaka Niizuma
, et al.
소스
Clinical Immunology Communications, Vol 5, Iss , Pp 34-40 (2024)
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7 . Academic Journal
Case Report: Identification of a CARD8 variant in all three patients with PFAPA syndrome complicated with Kawasaki disease
저자
by
Haruhiko Nakamura
;
Atsuo Kikuchi
;
Hideyuki Sakai
;
Miki Kamimura
;
Yohei Watanabe
, et al.
소스
Frontiers in Pediatrics, Vol 12 (2024)
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7 . Academic Journal
Artificial placenta support of extremely preterm ovine fetuses at the border of viability for up to 336 hours with maintenance of systemic circulation but reduced somatic and organ growth
저자
by
Haruo Usuda
;
Hideyuki Ikeda
;
Shimpei Watanabe
;
Shinichi Sato
;
Erin L. Fee
, et al.
소스
Frontiers in Physiology, Vol 14 (2023)
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7 . Academic Journal
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system
저자
by
Yoichi Wada
;
Eriko Totsune
;
Yasuko Mikami-Saito
;
Atsuo Kikuchi
;
Toshio Miyata
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100970- (2023)
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7 . Academic Journal
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2
저자
by
Akira Onuma
;
Aritomo Kawashima
;
Atsuo Kikuchi
;
Gen Tamiya
;
Hisao Yaoita
, et al.
소스
The Tohoku Journal of Experimental Medicine. 2022, 256(4):321
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7 . Academic Journal
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
저자
by
Jun Takayama
;
Shu Tadaka
;
Kenji Yano
;
Fumiki Katsuoka
;
Chinatsu Gocho
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
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7 . Academic Journal
Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening
저자
by
Toshihiro Suzuki
;
Yoichi Wada
;
Yasuko Mikami-Saito
;
Atsuo Kikuchi
;
Shigeo Kure
.
소스
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100834- (2022)
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7 . Academic Journal
Hypoketotic hypoglycemia in citrin deficiency: a case report
저자
by
Yoichi Wada
;
Natsuko Arai-Ichinoi
;
Atsuo Kikuchi
;
Osamu Sakamoto
;
Shigeo Kure
.
소스
BMC Pediatrics, Vol 20, Iss 1, Pp 1-4 (2020)
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7 . Academic Journal
A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy / 福祉施設入所を契機に発症し中鎖脂肪酸オイルが有効であった成人発症II型シトルリン血症の1例
저자
by
Atsuo Kikuchi
;
Hiroaki Sekiya
;
Kazuma Koda
;
Mariko Akaogi
;
Shigeo Kure
, et al.
소스
臨床神経学 / Rinsho Shinkeigaku. 2021, 61(3):200
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7 . Academic Journal
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
저자
by
Atsuo Kikuchi
;
Yoichi Wada
;
Toshihiro Ohura
;
Shigeo Kure
.
소스
International Journal of Neonatal Screening, Vol 7, Iss 4, p 68 (2021)
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