Nov. 2016
The Japanese Society for Inherited Metabolic Diseases, Best presentation award

Feb. 2016
The Fukuoka Association of Medical Science, Best presentation award

Jun. 2015
United Mitochondrial Disease Foundation, Best presentation award

May 2015
The Japanese Society of Child Neurology, Best presentation award

Selenium deficiency and scurvy due to an imbalanced diet of snacks and lacto-fermenting drinks: a case report of a 7-year-old boy with autism spectrum disorder.
Makoto Okada; Yugo Nagayama; Hitomi Saiki; Kazutoshi Ito; Shuichi Yatsuga; Shinichiro Nagamitsu
BMC nutrition, 08 Mar. 2023, 9(1):41 - 41, Refereed
Corresponding

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
Cameron Young; Dominyka Batkovskyte; Miyuki Kitamura; Maria Shvedova; Yutaro Mihara; Jun Akiba; Wen Zhou; Anna Hammarsjö; Gen Nishimura; Shuichi Yatsuga; Giedre Grigelioniene; Tatsuya Kobayashi
HGG advances, 12 Jan. 2023, 4(1):100148 - 100148, Refereed

Estimated Gestational Age From Infant's Foot Length in Japanese.
Shingo Niimi; Takuro Kimura; Reo Saiki; Hiroshi Kanda; Yuki Okamatsu; Maki Goto; Shuichi Yatsuga
Cureus, Dec. 2022, 14(12):e32991, Refereed
Corresponding

An exploratory study to identify neonatal arterial ischemic stroke: A single-center study.
Takashi Setoue; Shuichi Yatsuga; Kazutoshi Ito; Tatsuro Kodera; Yasuhiro Onda; Hiroyasu Kawano; Toshikazu Niimi; Tatsuki Miyamoto; Eiji Ohta; Shinichiro Nagamitsu
Brain & development, Nov. 2022, 44(10):672 - 680, Refereed
Corresponding

Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2-q14.
Yohei Horikawa; Shuichi Yatsuga; Takashi Ohya; Yuki Okamatsu
Clinical case reports, Nov. 2022, 10(11):e6545, Refereed
Corresponding

Estimate incidence and predictive factors of pediatric central diabetes insipidus in a single-institute study
Miyuki Kitamura; Junko Nishioka; Takako Matsumoto; Satoko Umino; Atsuko Kawano; Reo Saiki; Yukari Tanaka; Shuichi Yatsuga
Endocrine and Metabolic Science, 30 Jun. 2022, 7-8

Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis.
Kikumi Ushijima-Fuchino; Yuko Koga; Satoko Umino; Junko Nishioka; Junichiro Araki; Shuichi Yatsuga; Yushiro Yamashita
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2022, 31(3):199 - 204, Refereed

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).
Tomohiro Ishii; Kenichi Kashimada; Naoko Amano; Kei Takasawa; Akari Nakamura-Utsunomiya; Shuichi Yatsuga; Tokuo Mukai; Shinobu Ida; Mitsuhisa Isobe; Masaru Fukushi; Hiroyuki Satoh; Kaoru Yoshino; Michio Otsuki; Takuyuki Katabami; Toshihiro Tajima
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2022, 31(3):116 - 143, Refereed

Temporal changes and control variables of growth differentiation factor 15 levels during the first week of life in hospitalised newborn infants.
Masahiro Kinoshita; Shuichi Yatsuga; Osuke Iwata; Hisayoshi Okamura; Toshihiro Morisaki; Sachiko Iwata; Naoko Hara; Ryota Shindo; Mamoru Saikusa; Eimei Harada; Kennosuke Tsuda; Yushiro Yamashita; Yasutoshi Koga
Mitochondrion, Nov. 2021, 61:25 - 30, Refereed

Caffeine Intoxication Due to Antipyretic Analgesic Overdose in an Adolescent.
Yohei Horikawa; Shuichi Yatsuga; Yuki Okamatsu
Cureus, Sep. 2021, 13(9):e17922, Refereed
Corresponding

Increased Serum-Immunoglobulin G4 Levels in a 12-Year-Old Male Patient With Central Diabetes Insipidus.
Takuro Kimura; Satoko Umino; Miyuki Kitamura; Shuichi Yatsuga
Cureus, Aug. 2021, 13(8):e17362, Refereed
Corresponding

Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
Megumi Iwahashi-Odano; Keisuke Nagasaki; Maki Fukami; Junko Nishioka; Shuichi Yatsuga; Yumi Asakura; Masanori Adachi; Koji Muroya; Tomonobu Hasegawa; Satoshi Narumi
The Journal of clinical endocrinology and metabolism, 01 Nov. 2020, 105(11), Refereed

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.
Shuichi Yatsuga; Naoko Amano; Akari Nakamura-Utsunomiya; Hironori Kobayashi; Kei Takasawa; Keisuke Nagasaki; Akie Nakamura; Satsuki Nishigaki; Chikahiko Numakura; Ikuma Fujiwara; Kanshi Minamitani; Tomonobu Hasegawa; Toshihiro Tajima
Endocrine journal, 28 Aug. 2020, 67(8):853 - 857, Refereed
Lead

Severe Hypernatremia in Combined Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar State: A Case Report of Two Japanese Children.
Saho Shima; Satoko Umino; Miyuki Kitamura; Kikumi Ushijima; Shuichi Yatsuga
Cureus, 11 Aug. 2020, 12(8):e9672, Refereed
Corresponding

Growth differentiation factor 15 as a useful biomarker of heart failure in young patients with unrepaired congenital heart disease of left to right shunt.
Yoshiyuki Kagiyama; Shuichi Yatsuga; Masahiro Kinoshita; Yusuke Koteda; Shintaro Kishimoto; Yasutoshi Koga; Kenji Suda
Journal of cardiology, Jun. 2020, 75(6):697 - 701, Refereed

成長ホルモン注射により局所の脂肪萎縮を来した1男児例
古賀 木綿子; 八ツ賀 秀一; 海野 聡子; 古賀 靖敏
日本内分泌学会雑誌, Jan. 2020, 95(3):1251 - 1251

GDF-15, a mitochondrial disease biomarker, is associated with the severity of multiple sclerosis.
Seitaro Nohara; Akiko Ishii; Fumiko Yamamoto; Kumi Yanagiha; Tetsuya Moriyama; Naoki Tozaka; Zenshi Miyake; Shuichi Yatsuga; Yasutoshi Koga; Takashi Hosaka; Makoto Terada; Tetsuto Yamaguchi; Satoshi Aizawa; Naomi Mamada; Hiroshi Tsuji; Yasushi Tomidokoro; Kiyotaka Nakamagoe; Kazuhiro Ishii; Masahiko Watanabe; Akira Tamaoka
Journal of the neurological sciences, 15 Oct. 2019, 405:116429 - 116429, Refereed

A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Satoko Umino; Miyuki Kitamura; Yuko Katoh-Fukui; Maki Fukami; Takeshi Usui; Shuichi Yatsuga; Yasutoshi Koga
Molecular genetics & genomic medicine, Jun. 2019, 7(6):e730, Refereed
Corresponding

アルギニンによる超急性期治療における臨床症状、MRI画像、GDF15の推移
古賀 靖敏; 喜多村 美幸; 八ツ賀 秀一
脳と発達, May 2019, 51(Suppl.):S296 - S296

尿崩症と成長障害を呈し、MRIで下垂体病変を認め、1年後に胚細胞腫と診断したWilson病の10歳男児
喜多村 美幸; 八ツ賀 秀一; 坂田 清彦; 杉田 保雄; 古賀 靖敏
日本内分泌学会雑誌, Apr. 2019, 95(1):392 - 392

臨床心理士介入による小児高度肥満の治療効果
向笠 理緒; 八ツ賀 秀一; 喜多村 美幸; 松本 孝子
日本内分泌学会雑誌, Apr. 2019, 95(1):437 - 437

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder.
Takuro Kimura; Masayo Kagami; Keiko Matsubara; Shuichi Yatsuga; Rio Mukasa; Chiho Yatsuga; Takako Matsumoto; Yasutoshi Koga
Clinical case reports, Jan. 2019, 7(1):15 - 18, Refereed
Corresponding

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
Erina Suzuki; Hirohito Shima; Masayo Kagami; Shun Soneda; Toshiaki Tanaka; Shuichi Yatsuga; Junko Nishioka; Yuji Oto; Toshiya Kamiya; Yasuhiro Naiki; Tsutomu Ogata; Yasuko Fujisawa; Akie Nakamura; Sayaka Kawashima; Shuntaro Morikawa; Reiko Horikawa; Shinichiro Sano; Maki Fukami
Human genome variation, 2019, 6:7 - 7, Refereed

Nonalcoholic fatty liver disease with prolactin-secreting pituitary adenoma in an adolescent: A case report.
Yugo Takaki; Tatsuki Mizuochi; Junko Nishioka; Keisuke Eda; Shuichi Yatsuga; Yushiro Yamashita
Medicine, Oct. 2018, 97(42):e12879, Refereed

MELAS患者における疾患重症度と知能及び認知機能の関連性について
向笠 理緒; 八ツ賀 秀一; 喜多村 美幸; 古賀 靖敏
脳と発達, May 2018, 50(Suppl.):S394 - S394

中枢性甲状腺機能低下症を主訴に受診し、認知行動療法によって軽快退院となった回避・制限性食物摂取障害の6歳女児例
向笠 理櫻; 喜多村 美幸; 八ツ賀 秀一; 古賀 靖敏
日本内分泌学会雑誌, Apr. 2018, 94(1):441 - 441

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
Kikumi Ushijima; Syuichi Yatsuga; Takako Matsumoto; Akie Nakamura; Maki Fukami; Masayo Kagami
Journal of human genetics, Mar. 2018, 63(3):377 - 381, Refereed

A First Combination Case of 21-Hydroxilase Deficiency and CHARGE Syndrome Confirmed by Genetic Analysis
Kitamura Miyuki; Katoh-Fukui Yuko; Fukami Maki; Yatsuga Shuichi; Matsumoto Takako; Nishioka Junko; Koga Yasutoshi
HORMONE RESEARCH IN PAEDIATRICS, 2018, 90:142 - 143, Refereed

Fulminant type 1 diabetes mellitus in Japanese children and adolescents: Multi-institutional joint research of the Japanese study group of insulin therapy for childhood and adolescent diabetes
Kentaro Shiga; Tatsuhiko Urakami; Junichi Suzuki; Yasuhiro Igarashi; Hanako Tajima; Shin Amemiya; Shigetaka Sugihara; Ikuko Takahashi; Yusuke Tanahashi; Kumihiro Matsuo; Jiro Iwamoto; Shuichi Yatsuga; Akira Endo; Koji Takemoto; Junpei Hamada; Kenji Ihara; Yukashi Ohki; Ryuzo Takaya; Takahiro Mochizuki; Tomoyuki Kawamura; Yuko Horita; Mahoko Furujo; Masaru Inoue; Kosei Hasegawa; Masanori Adachi; Michiko Okajima; Kazuhiro Shimura; Shigeyuki Ohtsu; Kazuteru Kitsuda; Yoshiya Ito; Tomohiro Hori; Kanako Ishii; Yasusada Kawada; Hisakazu Nakajima; Ikuyo Ito; Kimitoshi Nakamura; Shinichiro Miyagawa; Kazuhiko Jinno; Reiko Horikawa; Tomoko Yoshida; Maki Fukami; Testuo Mori; Kisyo Kobayashi; Susumu Konda; Nozomu Sasaki; Toru Kikuchi; Ikuma Musha; Katsuya Aizu; Hiroshi Mochizuki; Tomoyuki Hotsubo; Kohei Sato; Yukiyo Yamamoto; Hiroko Kadowaki; Aki Nishii; Katsuyuki Matsui; Ichiro Yokota; Tatsuya Miyoshi; Noriyuki Takubo; Yosuke Hara; Nobuo Matsuura; Shigeki Miyamoto; Shun Soneda; Toshikazu Takahashi; Kohji Tsubouchi; Toshi Tatematsu; Kanshi Minamitani; Eishin Ogawa; Yoichi Izumi; Goro Sasaki; Emiko Tachikawa; Yasuko Uchigata; Yuki Yasuda; Kaori Sasaki; Sachiko Kitanaka; Tsuyoshi Isojima; Ikuma Fujiwara; Junko Kanno; Yumiko Kotani; Tadayuki Ayabe; Naoto Shimura; Junko Ichikawa; Keiichi Hanaki; Junichi Nagaishi; Susumu Kanzaki; Masanobu Fujimoto; Junko Ito; Haruo Mizuno; Yuuki Abe; Keisuke Nagasaki; Yohei Ogawa; Shinji Kadotani; Yoneo Kashihara; Misako Okuno; Tsutomu Ogata; Konosuke Ohtaka; Kenichi Miyako; Hitoshi Kohno; Takao Fujisawa; Shigeru Suga; Akemi Koike
Endocrine Journal, 2018, 65(8):795 - 803, Refereed

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.
Yuko Katoh-Fukui; Shuichi Yatsuga; Hirohito Shima; Atsushi Hattori; Akie Nakamura; Kohji Okamura; Kumiko Yanagi; Manami Iso; Tadashi Kaname; Yoichi Matsubara; Maki Fukami
Human genome variation, 2018, 5:18006 - 18006, Refereed

ミトコンドリア病とその類縁疾患における血清GDF15値について
八ツ賀 秀一; 喜多村 美幸; 古賀 靖敏
日本先天代謝異常学会雑誌, Sep. 2017, 33:212 - 212

mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression.
Nahid A Khan; Joni Nikkanen; Shuichi Yatsuga; Christopher Jackson; Liya Wang; Swagat Pradhan; Riikka Kivelä; Alberto Pessia; Vidya Velagapudi; Anu Suomalainen
Cell metabolism, 01 Aug. 2017, 26(2):419 - 428, Refereed

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.
Taichi Kitaoka; Toshihiro Tajima; Keisuke Nagasaki; Toru Kikuchi; Katsusuke Yamamoto; Toshimi Michigami; Satoshi Okada; Ikuma Fujiwara; Masayuki Kokaji; Hiroshi Mochizuki; Tsutomu Ogata; Koji Tatebayashi; Atsushi Watanabe; Shuichi Yatsuga; Takuo Kubota; Keiichi Ozono
Clinical endocrinology, Jul. 2017, 87(1):10 - 19, Refereed

小児救急病院受診者に観られる時間帯別の低身長患者の検討
佐々木 孝子; 牛嶋 規久美; 八ツ賀 秀一; 喜多村 美幸; 藤本 保; 西岡 淳子; 古賀 靖敏
日本小児科学会雑誌, Feb. 2017, 121(2):375 - 375

The first Japanese case of central precocious puberty with a novel MKRN3 mutation.
Junko Nishioka; Hirohito Shima; Maki Fukami; Shuichi Yatsuga; Takako Matsumoto; Kikumi Ushijima; Miyuki Kitamura; Yasutoshi Koga
Human genome variation, 2017, 4:17017 - 17017, Refereed
Corresponding

小児1型糖尿病の血清GDF15は低い
佐々木 孝子; 八ツ賀 秀一; 喜多村 美幸; 西岡 淳子; 古賀 靖敏
日本内分泌学会雑誌, Dec. 2016, 92(S.Branc):344 - 344

MELAS脳卒中様発作時のL-アルギニン療法は早期投与ほど予後を改善する
喜多村 美幸; 八ツ賀 秀一; 佐々木 孝子; 牛嶋 規久美; 齊木 玲央; 古賀 靖敏; 山下 裕史朗
日本小児科学会雑誌, Oct. 2016, 120(10):1567 - 1567

Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves' thyrotoxicosis: a case report.
Shuichi Yatsuga; Tomoko Saikusa; Takako Sasaki; Kikumi Ushijima; Miyuki Kitamura; Junko Nishioka; Yasutoshi Koga
Journal of medical case reports, 10 Aug. 2016, 10(1):219 - 219, Refereed
Lead

L-Arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS.
Miyuki Kitamura; Shuichi Yatsuga; Toshi Abe; Nataliya Povalko; Reo Saiki; Kikumi Ushijima; Yushiro Yamashita; Yasutoshi Koga
Journal of neurology, Aug. 2016, 263(8):1666 - 8, Refereed

小児内分泌疾患におけるFGF21の検討
八ツ賀 秀一; 佐々木 孝子; 西岡 淳子; 牛嶋 規久美; 喜多村 美幸; 古賀 靖敏
日本内分泌学会雑誌, Apr. 2016, 92(1):322 - 322

愛情遮断症候群により可逆性の成長ホルモン分泌低下を来したと思われる9歳男児
牛嶋 規久美; 八ツ賀 秀一; 佐々木 孝子; 喜多村 美幸; 古賀 靖敏
日本小児科学会雑誌, Feb. 2016, 120(2):346 - 346

TSH異常高値 マクロTSH血症と診断した4歳男児
西岡 淳子; 八ツ賀 秀一; 早田 峰子; 佐々木 孝子; 牛嶋 規久美; 喜多村 美幸; 中島 正幸; 古賀 靖敏; 山下 裕史朗
日本小児科学会雑誌, Feb. 2016, 120(2):349 - 349

高度肥満から虐待が疑われ迅速に対応できた3歳女児例
八ツ賀 秀一; 家村 明子; 須田 正勇; 松石 登志哉; 佐々木 孝子; 西岡 淳子; 古賀 靖敏; 山下 裕史朗
日本小児科学会雑誌, Feb. 2016, 120(2):398 - 398

MELAS脳卒中様発作超急性期のLアルギニン静注療法は症状とMRI異常を改善する
喜多村 美幸; 八ツ賀 秀一; 佐々木 孝子; 牛嶋 規久美; 齊木 玲央; 古賀 靖敏
日本小児科学会雑誌, Feb. 2016, 120(2):337 - 337

NR0B1 Frameshift Mutation in a Boy with Precocious Puberty and Normal Adrenal Function
Shima Hirohito; Yatsuga Shuichi; Nakamura Akie; Sano Shinichiro; Sasaki Takako; Katsumata Noriyuki; Suzuki Erina; Ogata Tsutomu; Fukami Maki
HORMONE RESEARCH IN PAEDIATRICS, 2016, 86:118 - 119, Refereed

ADHD-like behavior in a patient with hypothalamic hamartoma.
Koujyu Katayama; Yushiro Yamashita; Shuichi Yatsuga; Yasutoshi Koga; Toyojiro Matsuishi
Brain & development, Jan. 2016, 38(1):145 - 8, Refereed

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
Hirohito Shima; Shuichi Yatsuga; Akie Nakamura; Shinichiro Sano; Takako Sasaki; Noriyuki Katsumata; Erina Suzuki; Kenichiro Hata; Kazuhiko Nakabayashi; Yukihide Momozawa; Michiaki Kubo; Kohji Okamura; Shigeo Kure; Yoichi Matsubara; Tsutomu Ogata; Satoshi Narumi; Maki Fukami
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2016, 10(4):205 - 209, Refereed

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.
Shuichi Yatsuga; Yasunori Fujita; Akiko Ishii; Yoshihiro Fukumoto; Hajime Arahata; Tatsuyuki Kakuma; Toshio Kojima; Masafumi Ito; Masashi Tanaka; Reo Saiki; Yasutoshi Koga
Annals of neurology, Nov. 2015, 78(5):814 - 23, Refereed
Lead

低身長児における血清亜鉛の検討
西岡 淳子; 佐々木 孝子; 八ツ賀 秀一; 牛嶋 規久美; 片山 幸樹; 古賀 靖敏; 松石 豊次郎
日本小児科学会雑誌, Aug. 2015, 119(8):1291 - 1291

低身長患者の受診動機のアンケート調査
佐々木 孝子; 八ツ賀 秀一; 牛嶋 規久美; 片山 幸樹; 西岡 淳子; 古賀 靖敏; 松石 豊次郎
日本小児科学会雑誌, Aug. 2015, 119(8):1298 - 1298

小児低身長に関する保健師、看護師、学校教諭の意識調査
佐々木 孝子; 八ツ賀 秀一; 西岡 淳子; 片山 幸樹; 牛嶋 規久美; 古賀 靖敏
日本内分泌学会雑誌, Apr. 2015, 91(1):368 - 368

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia.
Koujyu Katayama; Nataliya Povalko; Shuichi Yatsuga; Junko Nishioka; Tatsuyuki Kakuma; Toyojiro Matsuishi; Yasutoshi Koga
Brain & development, Mar. 2015, 37(3):292 - 8, Refereed

小児低身長に関する保健師、看護師、学校教諭の意識調査
佐々木 孝子; 八ツ賀 秀一; 西岡 淳子; 片山 幸樹; 牛嶋 規久美; 古賀 靖敏
日本小児科学会雑誌, Feb. 2015, 119(2):433 - 433

皮膚線条を主訴に来院した思春期小児の2症例
牛嶋 規久美; 八ツ賀 秀一; 佐々木 孝子; 西岡 淳子; 片山 幸樹; 古賀 靖敏
日本小児科学会雑誌, Feb. 2015, 119(2):513 - 513

GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases.
Yasunori Fujita; Masafumi Ito; Toshio Kojima; Shuichi Yatsuga; Yasutoshi Koga; Masashi Tanaka
Mitochondrion, Jan. 2015, 20:34 - 42, Refereed

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
Yoko Izumi; Erina Suzuki; Susumu Kanzaki; Shuichi Yatsuga; Saori Kinjo; Maki Igarashi; Tetsuo Maruyama; Shinichiro Sano; Reiko Horikawa; Naoko Sato; Kazuhiko Nakabayashi; Kenichiro Hata; Akihiro Umezawa; Tsutomu Ogata; Yasunori Yoshimura; Maki Fukami
Fertility and sterility, Oct. 2014, 102(4):1130 - 1136, Refereed

低身長患者の受診動機のアンケート調査
佐々木 孝子; 八ツ賀 秀一; 片山 幸樹; 西岡 淳子; 古賀 靖敏; 松石 豊次郎
日本小児科学会雑誌, Jun. 2014, 118(6):1022 - 1022

De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency.
Erina Suzuki; Shuichi Yatsuga; Maki Igarashi; Mami Miyado; Kazuhiko Nakabayashi; Keiko Hayashi; Kenichirou Hata; Akihiro Umezawa; Gen Yamada; Tsutomu Ogata; Maki Fukami
Hormone research in paediatrics, 2014, 81(2):139 - 44, Refereed

Glycogenic hepatopathy and non-alcoholic fatty liver disease in type 1 diabetes patients.
Mamoru Saikusa; Shuichi Yatsuga; Tatsuyuki Tonan; Yasutoshi Koga
Pediatrics international : official journal of the Japan Pediatric Society, Dec. 2013, 55(6):806 - 7, Refereed
Corresponding

SGA性低身長症の認知度調査
八ツ賀 秀一; 西岡 淳子; 片山 幸樹; 古賀 靖敏; 松石 豊次郎
日本小児科学会雑誌, Jun. 2013, 117(6):1065 - 1065

A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves' disease: a case report.
Shuichi Yatsuga; Yuji Hiromatsu; Shigekazu Sasaki; Hirotoshi Nakamura; Koju Katayama; Junko Nishioka; Yasutoshi Koga
Journal of medical case reports, 20 Aug. 2012, 6:246 - 246, Refereed
Lead

MELAS: a nationwide prospective cohort study of 96 patients in Japan.
Shuichi Yatsuga; Nataliya Povalko; Junko Nishioka; Koju Katayama; Noriko Kakimoto; Toyojiro Matsuishi; Tatsuyuki Kakuma; Yasutoshi Koga
Biochimica et biophysica acta, May 2012, 1820(5):619 - 24, Refereed
Lead

Molecular pathology of MELAS and L-arginine effects.
Yasutoshi Koga; Nataliya Povalko; Junko Nishioka; Koujyu Katayama; Shuichi Yatsuga; Toyojiro Matsuishi
Biochimica et biophysica acta, May 2012, 1820(5):608 - 14, Refereed

Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice.
Shuichi Yatsuga; Anu Suomalainen
Human molecular genetics, 01 Feb. 2012, 21(3):526 - 35, Refereed
Lead

Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice.
Kati J Ahlqvist; Riikka H Hämäläinen; Shuichi Yatsuga; Marko Uutela; Mügen Terzioglu; Alexandra Götz; Saara Forsström; Petri Salven; Alexandre Angers-Loustau; Outi H Kopra; Henna Tyynismaa; Nils-Göran Larsson; Kirmo Wartiovaara; Tomas Prolla; Aleksandra Trifunovic; Anu Suomalainen
Cell metabolism, 04 Jan. 2012, 15(1):100 - 9, Refereed

一過性新生児糖尿病 インスリングラルギン著効例
財津 亜友子; 神田 洋; 八ツ賀 秀一; 秋田 幸大; 西岡 淳子; 片山 幸樹; 柿元 紀子; 古賀 靖敏; 松石 豊次郎
日本小児科学会雑誌, Aug. 2008, 112(8):1277 - 1277

Effect of L-arginine on synaptosomal mitochondrial function.
Koji Hirata; Yukihiro Akita; Nataliya Povalko; Junko Nishioka; Shuichi Yatsuga; Toyojiro Matsuishi; Yasutoshi Koga
Brain & development, Apr. 2008, 30(4):238 - 45, Refereed

ヌーナン症候群類もやもや病抗リン脂質抗体症候群の合併例でのLアルギニン内服効果
秋田 幸大; 八ツ賀 秀一; 西岡 淳子; 山下 裕史朗; 古賀 靖敏; 松石 豊次郎
日本小児科学会雑誌, Feb. 2008, 112(2):392 - 392

Inappropriate intracranial hemodynamics in the natural course of MELAS.
Junko Nishioka; Yukihiro Akita; Shuichi Yatsuga; Koujyu Katayama; Toyojiro Matsuishi; Masatoshi Ishibashi; Yasutoshi Koga
Brain & development, Feb. 2008, 30(2):100 - 5, Refereed

MELAS and L-arginine therapy.
Yasutoshi Koga; Yukihiro Akita; Junko Nishioka; Shuichi Yatsuga; Nataliya Povalko; Koujyu Katayama; Toyojiro Matsuishi
Mitochondrion, 2007, 7(1-2):133 - 9, Refereed

Endothelial dysfunction in MELAS improved by L-arginine supplementation
Y Koga; Y Akita; N Junko; S Yatsuga; N Povalko; R Fukiyama; M Ishii; T Matsuishi
NEUROLOGY, Jun. 2006, 66(11):1766 - 1769, Refereed

Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.
Isao Ueki; Yasutoshi Koga; Nataliya Povalko; Yukihiro Akita; Junko Nishioka; Shuichi Yatsuga; Ryo Fukiyama; Toyojiro Matsuishi
Mitochondrion, Feb. 2006, 6(1):29 - 36, Refereed

抗甲状腺薬(プロピルチオウラシル)治療中にANCA関連血管炎が考えられたバセドウ病の1例
秋田 幸大; 升永 憲治; 八ツ賀 秀一; 西岡 淳子; 古賀 靖敏; 松石 豊次郎
日本小児科学会雑誌, Dec. 2005, 109(12):1500 - 1501

老化モデルマウス(Klotho kl/klマウス)のエネルギー産生機能異常の解析
秋田 幸大; 古賀 靖敏; 西岡 淳子; 八ツ賀 秀一; 松石 豊次郎
日本小児科学会雑誌, Feb. 2005, 109(2):293 - 293

L-arginine improves the symptoms of stroke-like episodes in MELAS
Y Koga; Y Akita; J Nishioka; S Yatsuga; N Povalko; Y Tanabe; S Fujimoto; T Matsuishi
NEUROLOGY, Feb. 2005, 64(4):710 - 712, Refereed

Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations.
Atsuko Koga; Yasutoshi Koga; Yukihiro Akita; Ryo Fukiyama; Isao Ueki; Shuichi Yatsuga; Toyojiro Matsuishi
Neuromuscular disorders : NMD, Mar. 2003, 13(3):259 - 62, Refereed

Effects of L-arginine on the acute phase of strokes in three patients with MELAS
Y. Koga; M. Ishibashi; I. Ueki; S. Yatsuga; R. Fukiyama; Y. Akita; T. Matsuishi
Neurology, 12 Mar. 2002, 58(5):827 - 828

著明な成長障害にもかかわらず診断まで4年を要した萎縮性甲状腺炎
佐伯 瞳; 古賀 信彦; 児島 加奈子; 佐々木 聡子; 八ツ賀 秀一; 永光 信一郎
福岡大学医学紀要, Sep. 2024, 51(2):77 - 80

COVID-19流行下の受診控えにより相対的亜鉛過剰による銅欠乏性貧血をきたした医療的ケア児の1例
宗近 瑞希; 八ツ賀 秀一; 林 仁美; 佐々木 聡子; 女川 裕馬; 笹岡 大記; 永光 信一郎
小児内科, Apr. 2024, 56(4):723 - 725

登校困難を主訴に受診し2q37微小欠失症候群と診断した1例
清水 直政; 八ツ賀 秀一; 八ツ賀 千穂; 鈴木 雅彦; 櫻井 恭平; 立石 格
道南医学会ジャーナル, Jun. 2023, (6):34 - 38

子どもの肥満改善に対する母親のモチベーション
曲渕 翔; 徳田 智代; 向笠 理緒; 八ツ賀 秀一
久留米大学心理学研究, Mar. 2023, (22):51 - 59

メチルフェニデート過量内服5時間後に活性炭を投与した13歳男児
田中 友規; 嘉村 拓朗; 近藤 里香子; 八ツ賀 秀一; 岡松 由記
日本救急医学会雑誌, Apr. 2022, 33(4):173 - 177, Refereed
Corresponding

神経性やせ症に甲状腺中毒症を合併した1例—Anorexia nervosa in a patient with thyrotoxicosis—特集 小児内分泌学の進歩2015 ; 甲状腺
佐々木 孝子; 八ツ賀 秀一; 千葉 比呂美; 永光 信一郎; 古賀 靖敏
ホルモンと臨床 = Clinical Endocrinology, May 2014, 62(5):387 - 389
Corresponding

ミトコンドリア病の新しいバイオマーカーFGF21
八ツ賀 秀一; 古賀 靖敏
Clinical Neuroscience, 2014, 32:704 - 705
Lead

思春期早発症男児に併存したADHDにMethylphenidate徐放剤が著効した一例
山下 裕史朗; 片山 幸樹; 八ツ賀 秀一; 澁谷 郁彦; 大矢 崇志; 永光 信一郎; 古賀 靖敏; 松石 豊次郎
脳と発達, May 2012, 44(Suppl.):S242 - S242

海外留学報告 フィンランド,ヘルシンキ大学医学研究所 : ミトコンドリア病研究留学—Mitochondrial research in University of Helsinki, Finland
八ツ賀 秀一
久留米医学会雑誌, Apr. 2012, 75(3・4):中付1 - 3
Lead

MELASコホート調査にみる低身長の実態—Reality of short stature: MELAS cohort study on nationwide survey in Japan—特集 小児内分泌学の進歩2008
八ツ賀 秀一; 古賀 靖敏
ホルモンと臨床 = Clinical Endocrinology, Dec. 2008, 56(12):1261 - 1264
Lead

ミトコンドリア異常症,けいれん・意識障害を起こす疾患の治療・管理のポイント
古賀 靖敏; 八ツ賀 秀一
小児内科 38, 2006, :443 - 447

生化学
99 Apr. 2024

Pediatric endocrinology
20 Apr. 2014

community health science
20 Apr. 2016

Jan. 2025 - Present
Japanese Society for Gene Diagnosis and Therapy

Apr. 2022 - Present
Japanese Society for Treatment of Obesity

Apr. 2022 - Present
The Japanese Society for Pediatric Nephrology

Apr. 2022 - Present
Japanese Society of Nephrology

Feb. 2020 - Present
The Japanese Society for Hereditary Tumors

May 2018 - Present
Japanese Society for Neonatal Screening

May 2016 - Present
The Japanese Diabetes Society

Sep. 2015 - Present
The Japanese Society for Bone and Mineral Research

Sep. 2015 - Present
Japan Osteoporosis Society

Jan. 2015 - Present
The Japan Society of Pediatric Genetics

Oct. 2012 - Present
European Society of Paediatric Endocrinology

Apr. 2012 - Present
The Japan Endocrine Society

Dec. 2011 - Present
Japanese Society for Inherited Metabolic Diseases

Mar. 2007 - Present
The Japanese Society for Pediatric Endocrinology

Jun. 2006 - Present
The Japan Society of Human Genetics

May 2005 - Present
Japanese Society for Clinical Nutrition and Metabolism

Mar. 2005 - Present
The Japanese Society of Child Neurology

Apr. 2003 - Present
The Japanese Society of Mitochondrial Research and Medicine

May 2001 - Present
JAPAN PEDIATRIC SOCIETY

ミトコンドリア病の診療水準やQOL向上を目指した調査研究
厚生労働省, 難治性疾患政策研究事業
Apr. 2023 - Mar. 2026

GDF15を用いたミトコンドリア病・メタボリック症候群に対する創薬の基盤研究
Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C), Grant-in-Aid for Scientific Research (C)
Kurume University
01 Apr. 2018 - 31 Mar. 2021

ミトコンドリア病の新規バイオマーカーGDF15とFGF21の交絡因子の解明
Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C), Grant-in-Aid for Scientific Research (C)
Kurume University
01 Apr. 2016 - 31 Mar. 2019

ミトコンドリア病治療薬のための網羅的機能測定スクリーニングシステムの開発
Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C), Grant-in-Aid for Scientific Research (C)
Kurume University
01 Apr. 2013 - 31 Mar. 2016

血漿FGF21はミトコンドリア病の臨床症状を反映できるか？
Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research Grant-in-Aid for Young Scientists (B), Grant-in-Aid for Young Scientists (B)
Kurume University
01 Apr. 2013 - 31 Mar. 2016

電子伝達系酵素アッセンブリーにおける核およびミトコンドリア多型のシナジー効果
日本学術振興会, 科学研究費助成事業 挑戦的萌芽研究, 挑戦的萌芽研究
久留米大学
2007 - 2009

ミトコンドリア・核ゲノム間ネットワークの解明
日本学術振興会, 科学研究費助成事業 若手研究(B), 若手研究(B)
久留米大学
2008 - 2008

ミトコンドリア・核ゲノム連関遺伝情報ネットワークの解明
Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (B), Grant-in-Aid for Scientific Research (B)
Kurume University
2004 - 2007

編集委員
Peer review
道南医学会ジャーナル, 01 May 2024, Present

編集委員
Review
Mitochondrion, Sep. 2022, Present