Search Results - "TAKADA, G"

Serum alanine aminotransferase activity in obese children by Tazawa, Y, Noguchi, H, Nishinomiya, F, Takada, G

“…To confirm the significance of the serum alanine aminotransferase (ALT) test for the diagnosis of fatty liver and to clarify the relationship between serum ALT…”
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Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency by Koizumi, Akio, Nozaki, Jun-ichi, Ohura, Toshihiro, TsuyoshiKayo, Wada, Yasuhiko, Nezu, Jun-ichi, Ohashi, Rikiya, Tamai, Ikumi, Shoji, Yutaka, Takada, Goro, Kibira, Satoshi, Matsuishi, Toyojiro, Tsuji, Akira

“…Serum free-carnitine levels were determined in 973 unrelated white collar workers in Akita, Japan. Fourteen of these participants consistently had serum…”
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Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome by Takahashi, T, Takahashi, I, Komatsu, M, Sawaishi, Y, Higashi, K, Nishimura, G, Saito, H, Takada, G

“…Proximal symphalangism is an autosomal‐dominant disorder with ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive…”
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Effects of acute preload reduction on myocardial velocity during isovolumic contraction and myocardial acceleration in pediatric patients by Duan, Y Yuqing, Harada, K, Toyono, M, Ishii, H, Tamura, M, Takada, G

“…We evaluated the effects of acute preload reduction with inferior vena cava (IVC) occlusion on myocardial velocities during systole (Sa), early (Ea) and late…”
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Development of an efficient production method for β-mannosidase by the creation of an overexpression system in Aspergillus aculeatus by Kanamasa, S, Kawaguchi, T, Takada, G, Kajiwara, S, Sumitani, J, Arai, M

“…To develop an overexpression system in Aspergillus aculeatus in order to establish an efficient overproduction method of β-mannosidase (MANB). An…”
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An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II by Takahashi, I, Takahashi, T, Komatsu, M, Sato, T, Takada, G

“…A heterozygous base change was identified in exon 3 of the growth hormone (GH)‐1 gene in a Japanese family with autosomal dominant GH deficiency. All of the…”
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Niemann–Pick type C disease: Novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency by Tamura, Hiroaki, Takahashi, Tsutomu, Ban, Nobuhiro, Torisu, Hiroyuki, Ninomiya, Haruaki, Takada, Goro, Inagaki, Nobuya

“…Niemann–Pick type C (NPC) disease is an inherited lipid storage disorder characterized by the lysosomal accumulation of free cholesterol in affected cells…”
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Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries by Ishii, H., Takahashi, T., Toyono, M., Tamura, M., Harada, K., Yoshida, M., Nishikawa, Y., Enomoto, K., Takada, G.

“…Summary Two sisters with type B Niemann–Pick disease (genotype: S436R/S436R) showed cardiac dysfunctions, not secondary to pulmonary disease, at the beginning…”
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Body mass index can predict left ventricular diastolic filling in asymptomatic obese children by Harada, K, Orino, T, Takada, G

“…To examine the effects of body mass index on left ventricular diastolic function, flow velocity patterns of the pulmonary vein and mitral valve were measured…”
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Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients by Tazawa, Yusaku, Kobayashi, Keiko, Abukawa, Daiki, Nagata, Ikuo, Maisawa, Shunichi, Sumazaki, Ryo, Iizuka, Toshiyuki, Hosoda, Yoshito, Okamoto, Manabu, Murakami, Jun, Kaji, Shunsaku, Tabata, Ayako, Lu, Yao Bang, Sakamoto, Osamu, Matsui, Akira, Kanzaki, Susumu, Takada, Goro, Saheki, Takeyori, Iinuma, Kazuie, Ohura, Toshihiro

“…A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis…”
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Development of an efficient production method for ?-mannosidase by the creation of an overexpression system in Aspergillus aculeatus by Kanamasa, S., Kawaguchi, T., Takada, G., Kajiwara, S., Sumitani, J., Arai, M.

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P-89 An infant with radio-ulnarsynostosis and myelodysplastic syndrome (RCMD) had trisomy 8 and responded to immunosuppressive therapy by Yano, M., Watanabe, A., Takada, G.

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Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita by Takahashi, Tsutomu, Shoji, Yutaka, Shoji, Yasuko, Haraguchi, Naoki, Takahashi, Ikuko, Takada, Goro

“…To evaluate the hypothalamic-pituitary-gonadal axis in an infant with adrenal hypoplasia congenita, we measured the serum levels of testosterone and performed…”
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Changes in pulmonary venous flow patterns in patients with ventricular septal defect by Ito, T, Harada, K, Takada, G

“…We studied pulmonary venous (PV) flow patterns using Doppler echocardiography in 26 patients with ventricular septal defect less than 3 years of age. Fifteen…”
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Expression of Aspergillus aculeatus No. F-50 cellobiohydrolase I (cbhI) and beta-glucosidase 1 (bgl1) genes by Saccharomyces cerevisiae by Takada, G. (Osaka Prefectural Univ., Sakai (Japan). Coll. of Agriculture), Kawaguchi, T, Sumitani, J, Arai, M

“…A cellobiohydrolase I (cbhI) and a beta-glucosidase 1 (bgl1) gene of Aspergillus aculeatus were expressed in Saccharomyces cerevisiae. The transformed cells…”
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Posterior descending coronary artery flow reserve assessment by Doppler echocardiography in children with and without congenital heart defect: comparison with invasive technique by Aoki, M, Harada, K, Tamura, M, Toyono, M, Takada, G

“…To evaluate whether transthoracic Doppler echocardiography can reliably measure coronary flow velocity and coronary flow velocity reserve (CFVR) in the…”
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Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia by Takahashi, Tsutomu, Fujishima, Miwa, Tsuchida, Satoko, Enoki, Masamichi, Takada, Goro

“…Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, dental anomalies, postnatal growth…”
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A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group by Koizumi, A, Shoji, Y, Nozaki, J, Noguchi, A, E, X, Dakeishi, M, Ohura, T, Tsuyoshi, K, Yasuhiko, W, Manabe, M, Takasago, Y, Takada, G

“…Lysinuric protein intolerance is an autosomal recessive disease characterized by defective transport of the dibasic aminoacids. Mutational analysis of LPI…”
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An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda by Takahashi, T, Takahashi, I, Tsuchida, S, Oyama, K, Komatsu, M, Saito, H, Takada, G

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Effects of low-dose dobutamine on left ventricular diastolic filling in children by Harada, K, Tamura, M, Ito, T, Suzuki, T, Takada, G

“…To investigate the effects of dobutamine on the Doppler transmitral flow pattern in children with normal left ventricular function, Doppler echocardiography…”
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