Search Results - "Miyazawa, Mari"

Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods by Hasegawa, Kosei, Futagawa, Natsuko, Ago, Yuko, Miyahara, Hiroyuki, Harada, Daisuke, Miyazawa, Mari, Yoshimoto, Junko, Baba, Kenji, Moriwake, Tadashi, Tanaka, Hiroyuki, Tsukahara, Hirokazu

“…Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical…”
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Verification of risk scores to predict i.v. immunoglobulin resistance in incomplete Kawasaki disease by Kanamitsu, Kiichiro, Kakimoto, Hisako, Shimada, Akira, Nakata, Yusei, Ochi, Hiroaki, Watanabe, Hirokazu, Iwasaki, Yuka, Tokorodani, Chiho, Kanazawa, Akane, Maruyama, Hidehiko, Miyazawa, Mari, Nishiuchi, Ritsuo, Kikkawa, Kiyoshi

“…Background A recent study indicated the efficacy of the addition of prednisolone to i.v. immunoglobulin (IVIG) as initial treatment in patients with higher…”
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Ventriculoperitoneal shunt outcomes among infants by Maruyama, Hidehiko, Nakata, Yusei, Kanazawa, Akane, Watanabe, Hirokazu, Shigemitsu, Yusuke, Iwasaki, Yuka, Tokorodani, Chiho, Miyazawa, Mari, Nishiuchi, Ritsuo, Kikkawa, Kiyoshi

“…Ventriculoperitoneal shunts (VPSs) are used for the treatment of hydrocephalus. Here we analyzed the outcomes of VPS placements in 24 infants to determine the…”
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Changes in the features of invasive pneumococcal disease after introduction of the seven-valent pneumococcal conjugate vaccine in a regional core hospital of Kochi, Japan by Miyahara, Hiroyuki, Maruyama, Hidehiko, Kanazawa, Akane, Iwasaki, Yuka, Shigemitsu, Yusuke, Watanabe, Hirokazu, Tokorodani, Chiho, Miyazawa, Mari, Nakata, Yusei, Nishiuchi, Ritsuo, Kikkawa, Kiyoshi

“…Since the introduction of the seven-valent pneumococcal conjugate vaccine (PCV7) in 2007, invasive pneumococcal disease has declined, but the incidence of…”
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Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia by Amano, Naoko, Narumi, Satoshi, Aizu, Katsuya, Miyazawa, Mari, Okamura, Kohji, Ohashi, Hirofumi, Katsumata, Noriyuki, Ishii, Tomohiro, Hasegawa, Tomonobu

“…Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient steroid…”
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Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods by Hasegawa, Kosei, Futagawa, Natsuko, Ago, Yuko, Miyahara, Hiroyuki, Harada, Daisuke, Miyazawa, Mari, Yoshimoto, Junko, Baba, Kenji, Moriwake, Tadashi, Tanaka, Hiroyuki, Tsukahara, Hirokazu

“…Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical…”
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Hydrophilic-interaction liquid chromatography–tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine–guanine phosphoribosyltransferase deficiency by Hasegawa, Hiroshi, Shinohara, Yoshihiko, Nozaki, Sayako, Nakamura, Makiko, Oh, Koei, Namiki, Osamu, Suzuki, Kiyotaka, Nakahara, Akihiko, Miyazawa, Mari, Ishikawa, Ken, Himeno, Takahiro, Yoshida, Sayaka, Ueda, Takanori, Yamada, Yasukazu, Ichida, Kimiyoshi

“…•We have developed a LC–MS/MS method for determining erythrocyte PRPP concentration.•This method is selective and sensitive enough to measure erythrocyte PRPP…”
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Growth hormone therapy in achondroplasia by Seino, Y, Yamanaka, Y, Shinohara, M, Ikegami, S, Koike, M, Miyazawa, M, Inoue, M, Moriwake, T, Tanaka, H

“…Achondroplasia is one of the most common causes of severe rhizomelic dwarfism. We have previously reported the growth-promoting effect of growth hormone (GH)…”
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Reliability of a rapid test for the clinical diagnosis of influenza A/H1N1 2009 by Harada, Daisuke, Nishiuchi, Ritsuo, Iwasaki, Yuka, Watanabe, Hirokazu, Tokorodani, Chiho, Kanazawa, Akane, Kiguchi, Hisako, Gotoh, Shin-Ichiro, Miyazawa, Mari, Nakata, Yusei, Morishima, Tsuneo, Kikkawa, Kiyoshi

“…Abstract Background: The rapid diagnosis of a pandemic influenza A/H1N1 2009 (H1N1pdm) virus infection is required in ambulatory care settings, since early…”
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