Metreleptin worked in a diabetic woman with a history of hematopoietic stem cell transplantation (HSCT) during infancy: further support for the concept of ‘HSCT-associated lipodystrophy’
Adachi, Masanori, Muroya, Koji, Hanakawa, Junko, Asakura, Yumi
Published in Endocrine Journal (01.01.2021)
Published in Endocrine Journal (01.01.2021)
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Journal Article
A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care
Kawai, Masanobu, Muroya, Koji, Murakami, Nobuyuki, Ihara, Hiroshi, Takahashi, Yutaka, Horikawa, Reiko, Ogata, Tsutomu
Published in Endocrine Journal (01.01.2023)
Published in Endocrine Journal (01.01.2023)
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Journal Article
A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Answers
Yoshino, Atsunori, Kawamoto, Shinya, Abe, Toshihiro, Hidaka, Yuji, Muroya, Koji, Tokumoto, Tadahiko, Takeda, Tetsuro
Published in Pediatric nephrology (Berlin, West) (01.12.2021)
Published in Pediatric nephrology (Berlin, West) (01.12.2021)
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Journal Article
Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients
Narumi, Satoshi, Muroya, Koji, Asakura, Yumi, Adachi, Masanori, Hasegawa, Tomonobu
Published in The journal of clinical endocrinology and metabolism (01.04.2010)
Published in The journal of clinical endocrinology and metabolism (01.04.2010)
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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
Hara-Isono, Kaori, Matsubara, Keiko, Hamada, Riku, Shimada, Shun, Yamaguchi, Tomomi, Wakui, Keiko, Miyazaki, Osamu, Muroya, Koji, Kurosawa, Kenji, Fukami, Maki, Ogata, Tsutomu, Kosho, Tomoki, Kagami, Masayo
Published in Journal of human genetics (01.11.2021)
Published in Journal of human genetics (01.11.2021)
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Journal Article
A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Questions
Yoshino, Atsunori, Kawamoto, Shinya, Abe, Toshihiro, Hidaka, Yuji, Muroya, Koji, Tokumoto, Tadahiko, Takeda, Tetsuro
Published in Pediatric nephrology (Berlin, West) (01.12.2021)
Published in Pediatric nephrology (Berlin, West) (01.12.2021)
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Journal Article
Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone
Hatano, Megumi, Tanase-Nakao, Kanako, Uehara, Erika, Iwano, Reiko, Muroya, Koji, Narumi, Satoshi
Published in Clinical Pediatric Endocrinology (2024)
Published in Clinical Pediatric Endocrinology (2024)
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Journal Article
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling
Narumi, Satoshi, Opitz, Robert, Nagasaki, Keisuke, Muroya, Koji, Asakura, Yumi, Adachi, Masanori, Abe, Kiyomi, Sugisawa, Chiho, Kühnen, Peter, Ishii, Tomohiro, Nöthen, Markus M, Krude, Heiko, Hasegawa, Tomonobu
Published in Human molecular genetics (01.12.2022)
Published in Human molecular genetics (01.12.2022)
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Journal Article
Very long‐chain acyl‐CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest
Takizaki, Nao, Hanakawa, Junko, Iwano, Reiko, Hirano, Yasuhiro, Muroya, Koji
Published in Pediatrics international (01.08.2021)
Published in Pediatrics international (01.08.2021)
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Journal Article
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach
Abe, Kiyomi, Narumi, Satoshi, Suwanai, Ayuko S., Adachi, Masanori, Muroya, Koji, Asakura, Yumi, Nagasaki, Keisuke, Abe, Takayuki, Hasegawa, Tomonobu
Published in European journal of endocrinology (01.02.2018)
Published in European journal of endocrinology (01.02.2018)
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Journal Article
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies
Iwahashi-Odano, Megumi, Nagasaki, Keisuke, Fukami, Maki, Nishioka, Junko, Yatsuga, Shuichi, Asakura, Yumi, Adachi, Masanori, Muroya, Koji, Hasegawa, Tomonobu, Narumi, Satoshi
Published in The journal of clinical endocrinology and metabolism (01.11.2020)
Published in The journal of clinical endocrinology and metabolism (01.11.2020)
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Journal Article
Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia
Padidela, Raja, Whyte, Michael P., Glorieux, Francis H., Munns, Craig F., Ward, Leanne M., Nilsson, Ola, Portale, Anthony A., Simmons, Jill H., Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Högler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S., Biggin, Andrew, Perwad, Farzana, Williams, Angela, Nixon, Annabel, Sun, Wei, Chen, Angel, Skrinar, Alison, Imel, Erik A.
Published in Calcified tissue international (01.05.2021)
Published in Calcified tissue international (01.05.2021)
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Journal Article
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature
Hattori, Atsushi, Katoh-Fukui, Yuko, Nakamura, Akie, Matsubara, Keiko, Kamimaki, Tsutomu, Tanaka, Hiroyuki, Dateki, Sumito, Adachi, Masanori, Muroya, Koji, Yoshida, Shinobu, Ida, Shinobu, Mitani, Marie, Nagasaki, Keisuke, Ogata, Tsutomu, Suzuki, Erina, Hata, Kenichiro, Nakabayashi, Kazuhiko, Matsubara, Yoichi, Narumi, Satoshi, Tanaka, Toshiaki, Fukami, Maki
Published in Endocrine Journal (01.01.2017)
Published in Endocrine Journal (01.01.2017)
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Journal Article
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency
Kinjo, Kenichi, Nagasaki, Keisuke, Muroya, Koji, Suzuki, Erina, Ishiwata, Keisuke, Nakabayashi, Kazuhiko, Hattori, Atsushi, Nagao, Koji, Nozawa, Ryu-Suke, Obuse, Chikashi, Miyado, Kenji, Ogata, Tsutomu, Fukami, Maki, Miyado, Mami
Published in Scientific reports (03.07.2020)
Published in Scientific reports (03.07.2020)
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Journal Article
Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review
Sugisawa, Chiho, Takamizawa, Tetsuya, Abe, Kiyomi, Hasegawa, Tomonobu, Shiga, Kentaro, Sugawara, Hidenori, Ohsugi, Koji, Muroya, Koji, Asakura, Yumi, Adachi, Masanori, Daitsu, Takashi, Numakura, Chikahiko, Koike, Akemi, Tsubaki, Junko, Kitsuda, Kazuteru, Matsuura, Nobuo, Taniyama, Matsuo, Ishii, Sumiyasu, Satoh, Tetsurou, Yamada, Masanobu, Narumi, Satoshi
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
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Journal Article
Partial lipodystrophy in patients who have undergone hematopoietic stem cell transplantation during childhood: an institutional cross-sectional survey
Adachi, Masanori, Oto, Yuji, Muroya, Koji, Hanakawa, Junko, Asakura, Yumi, Goto, Hiroaki
Published in Clinical Pediatric Endocrinology (01.01.2017)
Published in Clinical Pediatric Endocrinology (01.01.2017)
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