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1 . Academic Journal
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan
저자
by
Go Tajima
;
Junko Aisaki
;
Keiichi Hara
;
Miyuki Tsumura
;
Reiko Kagawa
, et al.
소스
International Journal of Neonatal Screening, Vol 10, Iss 1, p 15 (2024)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity
저자
by
Go Tajima
;
Keiichi Hara
;
Miyuki Tsumura
;
Reiko Kagawa
;
Fumiaki Sakura
, et al.
소스
International Journal of Neonatal Screening, Vol 9, Iss 4, p 62 (2023)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Reduced expression of somatostatin in GABAergic interneurons derived from induced pluripotent stem cells of patients with parkin mutations
저자
by
Chizuru Iwasawa
;
Naoko Kuzumaki
;
Yukari Suda
;
Reiko Kagawa
;
Yuko Oka
, et al.
소스
Molecular Brain, Vol 12, Iss 1, Pp 1-8 (2019)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Analysis of changes in the expression of dopamine-related genes in fibromyalgia patient specific-iPS cell derived-dopaminergic neurons / 線維筋痛患者 iPS 細胞由来ドパミン神経細胞におけるドパミン関連遺伝子の発現変化の解析
저자
by
Hideyuki Okano
;
Hiroaki Matsumoto
;
Michiko Narita
;
Minoru Narita
;
Naoko Kuzumaki
, et al.
소스
Proceedings for Annual Meeting of The Japanese Pharmacological Society. 2020, :2-168
Open Access (JSTAGE)
Find it @ DONGA
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7 . Academic Journal
Short stature and growth hormone replacement therapy in pediatric brain tumor survivors / 小児・思春期の悪性脳腫瘍サバイバーの低身長と成長ホルモン補充療法
저자
by
Akari Nakamura-Utsunomiya
;
Akira Taguchi
;
Atsushi Tominaga
;
Fumiyuki Yamasaki
;
Kaoru Kurisu
, et al.
소스
小児の脳神経 / Nervous System in Children. 2020, 45(4):351
Open Access (JSTAGE)
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7 . Academic Journal
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation
저자
by
Reiko Kagawa
;
Go Tajima
;
Takako Maeda
;
Fumiaki Sakura
;
Akari Nakamura-Utsunomiya
, et al.
소스
International Journal of Neonatal Screening, Vol 7, Iss 3, p 39 (2021)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant
저자
by
Go Tajima
;
Reiko Kagawa
;
Fumiaki Sakura
;
Akari Nakamura-Utsunomiya
;
Keiichi Hara
, et al.
소스
International Journal of Neonatal Screening, Vol 7, Iss 3, p 35 (2021)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months
저자
by
Akari Nakamura-Utsunomiya
;
Toshio Nakamae
;
Reiko Kagawa
;
Shuhei Karakawa
;
Sonoko Sakata
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 3, p 989 (2020)
Open Access (DOAJ)
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7 . Academic Journal
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
저자
by
Sonoko Sakata
;
Satoshi Okada
;
Kohei Aoyama
;
Keiichi Hara
;
Chihiro Tani
, et al.
소스
Frontiers in Genetics, Vol 8 (2017)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis
저자
by
Osamu Hirata
;
Satoshi Okada
;
Miyuki Tsumura
;
Reiko Kagawa
;
Mizuka Miki
, et al.
소스
Haematologica, Vol 98, Iss 10 (2013)
Open Access (DOAJ)
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