Neonatal mass screening for 21-hydroxylase deficiency

por Tajima, Toshihiro, Fukushi, Masaru
Publicado 2016

Current concepts in perinatal mineral metabolism

por Ohata, Yasuhisa, Ozono, Keiichi, Michigami, Toshimi
Publicado 2016

A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone

por Ito, Jumpei, Narumi, Satoshi, Nishizawa, Kazumichi, Kamimaki, Tsutomu, Hori, Naoaki, Hasegawa, Tomonobu
Publicado 2016

Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features

por Ono, Erina, Ariga, Masamichi, Oshima, Sakiko, Hayakawa, Mika, Imai, Masayuki, Ochiai, Yukikatsu, Mochizuki, Hiroshi, Namba, Noriyuki, Ozono, Keiichi, Miyata, Ichiro
Publicado 2016

Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites

por Koyama, Yuhei, Homma, Keiko, Fukami, Maki, Miwa, Masayuki, Ikeda, Kazushige, Ogata, Tsutomu, Murata, Mitsuru, Hasegawa, Tomonobu
Publicado 2016

Gonadal function, fertility, and reproductive medicine in childhood and adolescent cancer patients: a national survey of Japanese pediatric endocrinologists

por Miyoshi, Yoko, Yorifuji, Tohru, Horikawa, Reiko, Takahashi, Ikuko, Nagasaki, Keisuke, Ishiguro, Hiroyuki, Fujiwara, Ikuma, Ito, Junko, Oba, Mari, Kawamoto, Hiroshi, Fujisaki, Hiroyuki, Kato, Masashi, Shimizu, Chikako, Kato, Tomoyasu, Matsumoto, Kimikazu, Sago, Haruhiko, Takimoto, Tetsuya, Okada, Hiroshi, Suzuki, Nao, Yokoya, Susumu, Ogata, Tsutomu, Ozono, Keiichi
Publicado 2016

Pheochromocytoma complicated by cyanotic congenital heart disease: a case report

por Yamamoto, Keiko, Namba, Noriyuki, Kubota, Takuo, Usui, Takeshi, Takahashi, Kunihiko, Kitaoka, Taichi, Fujiwara, Makoto, Hori, Yumiko, Kogaki, Shigetoyo, Oue, Takaharu, Morii, Eiichi, Ozono, Keiichi
Publicado 2016

Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset

por Fukuma, Mami, Ariyasu, Daisuke, Hatano, Megumi, Yagi, Hiroko, Hasegawa, Yukihiro
Publicado 2016

Growth standard charts for Japanese children with mean and standard deviation (SD) values based on the year 2000 national survey

por Isojima, Tsuyoshi, Kato, Noriko, Ito, Yoshiya, Kanzaki, Susumu, Murata, Mitsunori
Publicado 2016

Weight-for-height charts for Japanese children based on the year 2000 Report of School Health Statistics Research

por Ito, Yoshiya, Fujieda, Kenji, Okuno, Akimasa
Publicado 2016

Efficacy of single serum cortisol reading obtained between 9 AM and 10 AM as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic...

por Goto, Masahiro, Shibata, Nao, Hasegawa, Yukihiro
Publicado 2016

Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report

por Sato, Takeshi, Muroya, Koji, Hanakawa, Junko, Yamashita, Sumimasa, Nozawa, Kumiko, Masudo, Katsuhiko, Yamakawa, Tadashi, Asakura, Yumi, Hasegawa, Tomonobu, Adachi, Masanori
Publicado 2016

Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age

por Okuno, Misako, Yorifuji, Tohru, Kagami, Masayo, Ayabe, Tadayuki, Urakami, Tatsuhiko, Kawamura, Tomoyuki, Kikuchi, Nobuyuki, Yokota, Ichiro, Kikuchi, Toru, Amemiya, Shin, Suzuki, Junichi, Ogata, Tsutomu, Sugihara, Shigetaka, Fukami, Maki
Publicado 2016

A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3

por Nagahara, Keiko, Harada, Yuki, Futami, Tohru, Takagi, Masaki, Nishimura, Gen, Hasegawa, Yukihiro
Publicado 2016

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

por Higuchi, Shinji, Takagi, Masaki, Shimomura, Satoshi, Nishimura, Gen, Hasegawa, Yukihiro
Publicado 2016

A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1

por Tsunogai, Toshiki, Miyata, Ichiro, Kotake, Saori, Matsuura, Ryuki, Takagi, Ken, Nanba, Hiroyuki, Takahata, Noriko, Tajima, Toshihiro, Wada, Yasuyuki
Publicado 2016

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family

por Itoh, Masatsune, Kittaka, Yuko, Niida, Yo, Saikawa, Yutaka
Publicado 2016

Longitudinal observation of serum anti-Müllerian hormone in three girls after cancer treatment

por Miyoshi, Yoko, Yasuda, Kie, Tachibana, Makiko, Yoshida, Hisao, Miyashita, Emiko, Miyamura, Takako, Hashii, Yoshiko, Hashimoto, Kae, Kimura, Tadashi, Ozono, Keiichi
Publicado 2016

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation

por Mitani, Marie, Furuichi, Munehiro, Narumi, Satoshi, Hasegawa, Tomonobu, Chiga, Motoko, Uchida, Shinichi, Sato, Seiji
Publicado 2016

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1

por Nishizaki, Yoshimi, Hiura, Makoto, Sato, Hidetoshi, Ogawa, Yohei, Saitoh, Akihiko, Nagasaki, Keisuke
Publicado 2016