Caffeine Intoxication Due to Antipyretic Analgesic Overdose in an Adolescent

por Horikawa, Yohei, Yatsuga, Shuichi, Okamatsu, Yuki
Publicado 2021

Increased Serum-Immunoglobulin G4 Levels in a 12-Year-Old Male Patient With Central Diabetes Insipidus

por Kimura, Takuro, Umino, Satoko, Kitamura, Miyuki, Yatsuga, Shuichi
Publicado 2021

Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14

por Horikawa, Yohei, Yatsuga, Shuichi, Ohya, Takashi, Okamatsu, Yuki
Publicado 2022

Severe Hypernatremia in Combined Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar State: A Case Report of Two Japanese Children

por Shima, Saho, Umino, Satoko, Kitamura, Miyuki, Ushijima, Kikumi, Yatsuga, Shuichi
Publicado 2020

Nonalcoholic fatty liver disease with prolactin-secreting pituitary adenoma in an adolescent: A case report

por Takaki, Yugo, Mizuochi, Tatsuki, Nishioka, Junko, Eda, Keisuke, Yatsuga, Shuichi, Yamashita, Yushiro
Publicado 2018

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

por Okada, Makoto, Nagayama, Yugo, Saiki, Hitomi, Ito, Kazutoshi, Yatsuga, Shuichi, Nagamitsu, Shinichiro
Publicado 2023

A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report

por Yatsuga, Shuichi, Hiromatsu, Yuji, Sasaki, Shigekazu, Nakamura, Hirotoshi, Katayama, Koju, Nishioka, Junko, Koga, Yasutoshi
Publicado 2012

Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves’ thyrotoxicosis: a case report

por Yatsuga, Shuichi, Saikusa, Tomoko, Sasaki, Takako, Ushijima, Kikumi, Kitamura, Miyuki, Nishioka, Junko, Koga, Yasutoshi
Publicado 2016

Estimated Gestational Age From Infant's Foot Length in Japanese

por Niimi, Shingo, Kimura, Takuro, Saiki, Reo, Kanda, Hiroshi, Okamatsu, Yuki, Goto, Maki, Yatsuga, Shuichi
Publicado 2022

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

por Umino, Satoko, Kitamura, Miyuki, Katoh‐Fukui, Yuko, Fukami, Maki, Usui, Takeshi, Yatsuga, Shuichi, Koga, Yasutoshi
Publicado 2019

Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis

por Ushijima-Fuchino, Kikumi, Koga, Yuko, Umino, Satoko, Nishioka, Junko, Araki, Junichiro, Yatsuga, Shuichi, Yamashita, Yushiro
Publicado 2022

l-Arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS

por Kitamura, Miyuki, Yatsuga, Shuichi, Abe, Toshi, Povalko, Nataliya, Saiki, Reo, Ushijima, Kikumi, Yamashita, Yushiro, Koga, Yasutoshi
Publicado 2016

The first Japanese case of central precocious puberty with a novel MKRN3 mutation

por Nishioka, Junko, Shima, Hirohito, Fukami, Maki, Yatsuga, Shuichi, Matsumoto, Takako, Ushijima, Kikumi, Kitamura, Miyuki, Koga, Yasutoshi
Publicado 2017

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

por Kimura, Takuro, Kagami, Masayo, Matsubara, Keiko, Yatsuga, Shuichi, Mukasa, Rio, Yatsuga, Chiho, Matsumoto, Takako, Koga, Yasutoshi
Publicado 2018

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

por Yatsuga, Shuichi, Fujita, Yasunori, Ishii, Akiko, Fukumoto, Yoshihiro, Arahata, Hajime, Kakuma, Tatsuyuki, Kojima, Toshio, Ito, Masafumi, Tanaka, Masashi, Saiki, Reo, Koga, Yasutoshi
Publicado 2015

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

por Katoh-Fukui, Yuko, Yatsuga, Shuichi, Shima, Hirohito, Hattori, Atsushi, Nakamura, Akie, Okamura, Kohji, Yanagi, Kumiko, Iso, Manami, Kaname, Tadashi, Matsubara, Yoichi, Fukami, Maki
Publicado 2018

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

por Young, Cameron, Batkovskyte, Dominyka, Kitamura, Miyuki, Shvedova, Maria, Mihara, Yutaro, Akiba, Jun, Zhou, Wen, Hammarsjö, Anna, Nishimura, Gen, Yatsuga, Shuichi, Grigelioniene, Giedre, Kobayashi, Tatsuya
Publicado 2022

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

por Ishii, Tomohiro, Kashimada, Kenichi, Amano, Naoko, Takasawa, Kei, Nakamura-Utsunomiya, Akari, Yatsuga, Shuichi, Mukai, Tokuo, Ida, Shinobu, Isobe, Mitsuhisa, Fukushi, Masaru, Satoh, Hiroyuki, Yoshino, Kaoru, Otsuki, Michio, Katabami, Takuyuki, Tajima, Toshihiro
Publicado 2022

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

por Suzuki, Erina, Shima, Hirohito, Kagami, Masayo, Soneda, Shun, Tanaka, Toshiaki, Yatsuga, Shuichi, Nishioka, Junko, Oto, Yuji, Kamiya, Toshiya, Naiki, Yasuhiro, Ogata, Tsutomu, Fujisawa, Yasuko, Nakamura, Akie, Kawashima, Sayaka, Morikawa, Shuntaro, Horikawa, Reiko, Sano, Shinichiro, Fukami, Maki
Publicado 2019