A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8

por Iwahashi-Odano, Megumi, Kitamura, Miyuki, Narumi, Satoshi
Publicado 2022

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

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

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

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

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

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

Thyroid-related ophthalmopathy development in concurrence with growth hormone administration

por Iwata, Shimpei, Tsumura, Kenji, Ashida, Kenji, Tokubuchi, Ichiro, Demiya, Mutsuyuki, Kitamura, Miyuki, Ohshima, Hiroyuki, Yano, Mamiko, Nagayama, Ayako, Yasuda, Junichi, Tsuruta, Munehisa, Motomura, Seiichi, Yoshida, Shigeo, Nomura, Masatoshi
Publicado 2021