業績集

原著論文(英語・2017年):

  1. Kubaski F., Mason R. W., Nakatomi A., Shintaku H., Xie L., van Vlies N. N., Church H., Giugliani R., Kobayashi H., Yamaguchi S., Suzuki Y., Orii T., Fukao T., Montano A. M., Tomatsu S.: Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry. J Inherit Metab Dis. 40, 151-158, 2017
  2. Ohnishi H., Kawamoto N., Seishima M., Ohara O., Fukao T.: A Japanese family case with juvenile onset Behcet's disease caused by TNFAIP3 mutation. Allergol Int. 66, 146-148, 2017
  3. Akagawa S., Fukao T., Akagawa Y., Sasai H., Kohdera U., Kino M., Shigematsu Y., Aoyama Y., Kaneko K.: Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression. JIMD Rep. 32, 81-85, 2017
  4. Kubaski F., Suzuki Y., Orii K., Giugliani R., Church H. J., Mason R. W., Dung V. C., Ngoc C. T., Yamaguchi S., Kobayashi H., Girisha K. M., Fukao T., Orii T., Tomatsu S.: Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Mol Genet Metab. 120, 247-254, 2017
  5. Sasai H., Aoyama Y., Otsuka H., Abdelkreem E., Nakama M., Hori T., Ohnishi H., Turner L., Fukao T.: Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene. Mol Genet Genomic Med. 5, 177-184, 2017
  6. Yamamoto T., Endo W., Ohnishi H., Kubota K., Kawamoto N., Inui T., Imamura A., Takanashi J. I., Shiina M., Saitsu H., Ogata K., Matsumoto N., Haginoya K., Fukao T.: The first report of Japanese patients with asparagine synthetase deficiency. Brain Dev. 39, 236-242, 2017
  7. Kaneko H., Izumi R., Oda H., Ohara O., Sameshima K., Ohnishi H., Fukao T., Funato M.: Nationwide survey of BallerGerold syndrome in Japanese population. Mol Med Rep. 15, 3222-3224, 2017
  8. Nguyen K. N., Abdelkreem E., Colombo R., Hasegawa Y., Can N. T., Bui T. P., Le H. T., Tran M. T., Nguyen H. T., Trinh H. T., Aoyama Y., Sasai H., Yamaguchi S., Fukao T., Vu D. C.: Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. J Inherit Metab Dis. 40, 395-401, 2017
  9. Yoshida N., Sakaguchi H., Muramatsu H., Okuno Y., Song C., Dovat S., Shimada A., Ozeki M., Ohnishi H., Teramoto T., Fukao T., Kondo N., Takahashi Y., Matsumoto K., Kato K., Kojima S.: Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia. Leukemia. 31, 1221-1223, 2017
  10. Fujii A., Mizutani Y., Hattori Y., Takahashi T., Ohnishi H., Yoshida S., Seishima M.: Sweet's Syndrome Successfully Treated with Granulocyte and Monocyte Adsorption Apheresis. Case Rep Dermatol. 9, 13-18, 2017
  11. Aoyama Y., Sasai H., Abdelkreem E., Otsuka H., Nakama M., Kumar S., Aroor S., Shukla A., Fukao T.: A novel mutation (c.12113T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene. Mol Med Rep. 15, 3879-3884, 2017
  12. Kawamoto N., Kamemura N., Kido H., Fukao T.: Detection of ovomucoid-specific low-affinity IgE in infants and its relationship to eczema. Pediatr Allergy Immunol. 28, 355-361, 2017
  13. Petersheim D., Massaad M. J., Lee S., Scarselli A., Cancrini C., Moriya K., Sasahara Y., Lankester A. C., Dorsey M., Di Giovanni D., Bezrodnik L., Ohnishi H., Nishikomori R., Tanita K., Kanegane H., Morio T., Gelfand E. W., Jain A., Secord E., Picard C., Casanova J. L., Albert M. H., Torgerson T. R., Geha R. S.: Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J Allergy Clin Immunol. 2017
  14. Kagawa R., Fujiki R., Tsumura M., Sakata S., Nishimura S., Itan Y., Kong X. F., Kato Z., Ohnishi H., Hirata O., Saito S., Ikeda M., El Baghdadi J., Bousfiha A., Fujiwara K., Oleastro M., Yancoski J., Perez L., Danielian S., Ailal F., Takada H., Hara T., Puel A., Boisson-Dupuis S., Bustamante J., Casanova J. L., Ohara O., Okada S., Kobayashi M.: Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants. J Allergy Clin Immunol. 140, 232-241, 2017
  15. Saito T., Ikeda M., Hashimoto R., Iwata N., Members of the Clozapine Pharmacogenomics Consortium of Japan are the following, Yamamori H., Yasuda Y., Fujimoto M., Kondo K., Shimasaki A., Kawase K., Miyata M., Mushiroda T., Ozeki T., Kubo M., Fujita K., Kida N., Nakai M., Otsuru T., Fukuji Y., Murakami M., Mizuno K., Shiratsuchi T., Numata S., Ohmori T., Ueno S. I., Yada Y., Tanaka S., Kishi Y., Takaki M., Mamoto A., Taniguchi N., Sawa Y., Watanabe H., Noda T., Amano Y., Kimura T., Fukao T., Suwa T., Murai T., Kubota M., Ueda K., Tabuse H., Kanahara N., Kawai N., Nemoto K., Makinodan M., Nishihata Y., Hashimoto N., Kusumi I., Fujii Y., Miyata R., Hirakawa K., Ozaki N.: Transethnic Replication Study to Assess the Association Between Clozapine-Induced Agranulocytosis/Granulocytopenia and Genes at 12p12.2 in a Japanese Population. Biol Psychiatry. 82, e9-e10, 2017
  16. Matsuzawa-Kinomura Y., Ozeki M., Otsuka H., Orii K., Fukao T.: Neonatal dysphonia caused by subglottic infantile hemangioma. Pediatr Int. 59, 935-936, 2017
  17. Ohnishi H., Kishimoto Y., Taguchi T., Kawamoto N., Nakama M., Kawai T., Nakayama M., Ohara O., Orii K., Fukao T.: Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. J Clin Immunol. 37, 529-538, 2017
  18. Ozeki M., Nozawa A., Kanda K., Hori T., Nagano A., Shimada A., Miyazaki T., Fukao T.: Everolimus for Treatment of Pseudomyogenic Hemangioendothelioma. J Pediatr Hematol Oncol. 39, e328-e331, 2017
  19. Samura O., Sekizawa A., Suzumori N., Sasaki A., Wada S., Hamanoue H., Hirahara F., Sawai H., Nakamura H., Yamada T., Miura K., Masuzaki H., Nakayama S., Okai T., Kamei Y., Namba A., Murotsuki J., Tanemoto T., Fukushima A., Haino K., Tairaku S., Matsubara K., Maeda K., Kaji T., Ogawa M., Osada H., Nishizawa H., Okamoto Y., Kanagawa T., Kakigano A., Kitagawa M., Ogawa M., Izumi S., Katagiri Y., Takeshita N., Kasai Y., Naruse K., Neki R., Masuyama H., Hyodo M., Kawano Y., Ohba T., Ichizuka K., Kido Y., Fukao T., Miharu N., Nagamatsu T., Watanabe A., Hamajima N., Hirose M., Sanui A., Shirato N., Yotsumoto J., Nishiyama M., Hirose T., Sago H.: Current status of non-invasive prenatal testing in Japan. J Obstet Gynaecol Res. 43, 1245-1255, 2017
  20. Takano C., Ishige M., Ogawa E., Usui H., Kagawa R., Tajima G., Fujiki R., Fukao T., Mizuta K., Fuchigami T., Takahashi S.: A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation. Pediatr Transplant. 21, 2017
  21. Bruun T. U. J., DesRoches C. L., Wilson D., Chau V., Nakagawa T., Yamasaki M., Hasegawa S., Fukao T., Marshall C., Mercimek-Andrews S.: Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. Genet Med. 2017
  22. Abdelkreem E., Akella R. R. D., Dave U., Sane S., Otsuka H., Sasai H., Aoyama Y., Nakama M., Ohnishi H., Mahmoud S., Abd El Aal M., Fukao T.: Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. JIMD Rep. 35, 59-65, 2017
  23. Grunert S. C., Schmitt R. N., Schlatter S. M., Gemperle-Britschgi C., Balci M. C., Berg V., Coker M., Das A. M., Demirkol M., Derks T. G. J., Gokcay G., Ucar S. K., Konstantopoulou V., Christoph Korenke G., Lotz-Havla A. S., Schlune A., Staufner C., Tran C., Visser G., Schwab K. O., Fukao T., Sass J. O.: Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Mol Genet Metab. 122, 67-75, 2017
  24. Kubota K., Yamamoto T., Kawamoto M., Kawamoto N., Fukao T.: Levetiracetam-induced rhabdomyolysis: A case report and literature review. Neurology Asia. 22, 275-278, 2017
  25. Yagami A., Aihara M., Ikezawa Z., Hide M., Kishikawa R., Morita E., Chinuki Y., Fukutomi Y., Urisu A., Fukushima A., Itagaki Y., Sugiura S. I., Tanaka H., Teshima R., Kato Z., Noguchi E., Nakamura M., Saito H., Matsunaga K.: Outbreak of immediate-type hydrolyzed wheat protein allergy due to a facial soap in Japan. J Allergy Clin Immunol. 140, 879-881 e877, 2017
  26. Fujii A., Ohnishi H., Seishima M.: Generalized Pustular Psoriasis With IL-36 Receptor Antagonist Mutation Successfully Treated With Granulocyte and Monocyte Adsorption Apheresis Accompanied by Reduced Serum IL-6 Level. Ther Apher Dial. 2017
  27. Kadowaki S., Hori T., Matsumoto H., Kanda K., Ozeki M., Shirakami Y., Kawamoto N., Ohnishi H., Fukao T.: Prepubertal onset of slipped capital femoral epiphysis associated with hypothyroidism: a case report and literature review. BMC Endocr Disord. 17, 59, 2017
  28. Kato H., Ozeki M., Fukao T., Matsuo M.: MR imaging findings of vertebral involvement in Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. Jpn J Radiol. 35, 606-612, 2017
  29. Kubaski F., Yabe H., Suzuki Y., Seto T., Hamazaki T., Mason R. W., Xie L., Onsten T. G. H., Leistner-Segal S., Giugliani R., Dung V. C., Ngoc C. T. B., Yamaguchi S., Montano A. M., Orii K. E., Fukao T., Shintaku H., Orii T., Tomatsu S.: Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II. Biol Blood Marrow Transplant. 23, 1795-1803, 2017
  30. Kubota K., Yamamoto T., Orii K., Shinoda S., Fukao T.: Acute dystonia associated with aripiprazole overdose in an adolescent boy. Asian J Psychiatr. 29, 183-184, 2017
  31. Nozawa A., Ozeki M., Hori T., Kawamoto N., Hirayama M., Azuma E., Fukao T.: A Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With Eculizumab. J Pediatr Hematol Oncol. 2017
  32. Sasai H., Aoyama Y., Otsuka H., Abdelkreem E., Naiki Y., Kubota M., Sekine Y., Itoh M., Nakama M., Ohnishi H., Fujiki R., Ohara O., Fukao T.: Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis. J Inherit Metab Dis. 40, 845-852, 2017
  33. Tajima G., Hara K., Tsumura M., Kagawa R., Okada S., Sakura N., Maruyama S., Noguchi A., Awaya T., Ishige M., Ishige N., Musha I., Ajihara S., Ohtake A., Naito E., Hamada Y., Kono T., Asada T., Sasai H., Fukao T., Fujiki R., Ohara O., Bo R., Yamada K., Kobayashi H., Hasegawa Y., Yamaguchi S., Takayanagi M., Hata I., Shigematsu Y., Kobayashi M.: Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity. Mol Genet Metab. 122, 67-75, 2017
  34. Ohnishi H, Kadowaki T, Mizutani Y, Nishida E, Tobita R, Abe N, Yamaguchi Y, Eto H, Honma M, Kanekura T, Okubo Y, Seishima M, Fukao T, Ikeda S: Genetic backgrounds and therapeutic responses of generalized pustular psoriasis patients treated with granulocyte and monocyte adsorption apheresis. Eur J Dermatol. 2017
  35. Kadowaki T., Ohnishi H., Kawamoto N., Hori T., Nishimura K., Kobayashi C., Shigemura T., Ogata S., Inoue Y., Kawai T., Hiejima E., Takagi M., Imai K., Nishikomori R., Ito S., Heike T., Ohara O., Morio T., Fukao T., Kanegane H.: Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J Allergy Clin Immunol. 2017

原著論文(和文・2017年):

  1. 山本 崇裕, 西村 悟子, 久保田 一生, 深尾 敏幸: 福祉の現場から 在宅重症心身障害児者における栄養法に関するコホート研究. 地域ケアリング. 19, 57-60, 2017
  2. 清水 麻由, 赤司 賢一, 川本 典生, 荒川 浩一: CQ3 小児気管支喘息患者の長期管理において有症状時にのみ吸入ステロイド薬 (ICS) を吸入 (間欠吸入) することは有用か?. 日本小児アレルギー学会誌. 31, 216-223, 2017
  3. 川本 典生, 清水 麻由, 赤司 賢一, 荒川 浩一: CQ7 小児気管支喘息患者の急性増悪 (発作) 時に吸入ステロイド薬の増量は有用か?. 日本小児アレルギー学会誌. 31, 336-342, 2017
  4. 山田 佑也, 久保田 一生, 立川 優果, 加藤 雅弘, 稲川 明良, 鹿野 博明, 岩田 晶子, 藤井 秀比古, 中嶋 義記: ウイルス感染を契機に筋力低下の増悪と急性呼吸不全を来し、筋力回復までに長期間を要した福山型先天性筋ジストロフィーの1例. 小児科臨床. 70, 1447-1452, 2017
  5. 熊谷 千紗, 久保田 一生, 川合 裕規, 山本 崇裕, 木村 豪, 小関 道夫, 川本 美奈子, 川本 典生, 磯貝 光治, 深尾 敏幸: 低血糖を主訴に紹介された乳児ボツリヌス症の1例. 小児科臨床. in press, 2017

原著論文(英語・2016年):

  1. Djouadi F., Habarou F., Le Bachelier C., Ferdinandusse S., Schlemmer D., Benoist J. F., Boutron A., Andresen B. S., Visser G., de Lonlay P., Olpin S., Fukao T., Yamaguchi S., Strauss A. W., Wanders R. J., Bastin J.: Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate. J Inherit Metab Dis. 39, 47-58, 2016
  2. Kubaski F., Mason R. W., Nakatomi A., Shintaku H., Xie L., van Vlies N. N., Church H., Giugliani R., Kobayashi H., Yamaguchi S., Suzuki Y., Orii T., Fukao T., Montano A. M., Tomatsu S.: Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry. J Inherit Metab Dis. 40, 151-158, 2017
  3. Ohnishi H., Kawamoto N., Seishima M., Ohara O., Fukao T.: A Japanese family case with juvenile onset Behcet's disease caused by TNFAIP3 mutation. Allergol Int. 66, 146-148, 2017
  4. Ohuchi K., Funato M., Kato Z., Seki J., Kawase C., Tamai Y., Ono Y., Nagahara Y., Noda Y., Kameyama T., Ando S., Tsuruma K., Shimazawa M., Hara H., Kaneko H.: Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog. Stem Cells Transl Med. 5, 152-163, 2016
  5. Kato S., Yabe H., Takakura H., Mugishima H., Ishige M., Tanaka A., Kato K., Yoshida N., Adachi S., Sakai N., Hashii Y., Ohashi T., Sasahara Y., Suzuki Y., Tabuchi K.: Hematopoietic stem cell transplantation for inborn errors of metabolism: A report from the Research Committee on Transplantation for Inborn Errors of Metabolism of the Japanese Ministry of Health, Labour and Welfare and the Working Group of the Japan Society for Hematopoietic Cell Transplantation. Pediatr Transplant. 20, 203-214, 2016
  6. Sasai H., Aoyama Y., Otsuka H., Abdelkreem E., Nakama M., Hori T., Ohnishi H., Turner L., Fukao T.: Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene. Mol Genet Genomic Med. 5, 177-184, 2017
  7. Sotoma S., Iimura J., Igarashi R., Hirosawa K. M., Ohnishi H., Mizukami S., Kikuchi K., Fujiwara T. K., Shirakawa M., Tochio H.: Selective Labeling of Proteins on Living Cell Membranes Using Fluorescent Nanodiamond Probes. Nanomaterials (Basel). 6, 2016
  8. Abdelkreem E., Otsuka H., Sasai H., Aoyama Y., Hori T., Abd El Aal M., Mahmoud S., Fukao T.: Beta-Ketothiolase Deficiency: Resolving Challenges in Diagnosis. Journal of Inborn Errors of Metabolism & Screening. 4, 232640981663664, 2016
  9. Kubota K., Shimizu-Motohashi Y., Saito T., Akatsuka S., Takeshita E., Ishiyama A., Komaki H., Nakagawa E., Sugai K., Sasaki M.: The long-term health impact and potential predictors of cardiopulmonary arrest in patients with childhood-onset psychomotor impairments. Brain Dev. 38, 392-398, 2016
  10. Nguyen K. N., Abdelkreem E., Colombo R., Hasegawa Y., Can N. T., Bui T. P., Le H. T., Tran M. T., Nguyen H. T., Trinh H. T., Aoyama Y., Sasai H., Yamaguchi S., Fukao T., Vu D. C.: Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. J Inherit Metab Dis. 40, 395-401, 2017
  11. Nozawa A., Ozeki M., Kuze B., Asano T., Matsuoka K., Fukao T.: Gorham-Stout Disease of the Skull Base With Hearing Loss: Dramatic Recovery and Antiangiogenic Therapy. Pediatr Blood Cancer. 63, 931-934, 2016
  12. Otsuka H., Ozeki M., Kanda K., Hori T., Kawamoto N., Saigo C., Kato H., Makita H., Shibata T., Fukao T.: Complete bone regeneration in hemophilic pseudotumor of the mandible. Pediatr Int. 58, 406-408, 2016
  13. Ozeki M., Fujino A., Matsuoka K., Nosaka S., Kuroda T., Fukao T.: Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. Pediatr Blood Cancer. 63, 832-838, 2016
  14. Ozeki M., Hori T., Kanda K., Kawamoto N., Ibuka T., Miyazaki T., Fukao T.: Everolimus for Primary Intestinal Lymphangiectasia With Protein-Losing Enteropathy. Pediatrics. 137, e20152562, 2016
  15. Kubota K., Kinomura Y., Yamamoto T., Ozeki M., Kawamoto M., Kawamoto N., Fukao T.: ACTH therapy for West syndrome with severe hemophilia A. Epilepsy Behav Case Rep. 6, 1-2, 2016
  16. Matsunami M., Shimozawa N., Fukuda A., Kumagai T., Kubota M., Chong P. F., Kasahara M.: Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. Pediatrics. 137, 2016
  17. Yasuda E., Suzuki Y., Shimada T., Sawamoto K., Mackenzie W. G., Theroux M. C., Pizarro C., Xie L., Miller F., Rahman T., Kecskemethy H. H., Nagao K., Morlet T., Shaffer T. H., Chinen Y., Yabe H., Tanaka A., Shintaku H., Orii K. E., Orii K. O., Mason R. W., Montano A. M., Fukao T., Orii T., Tomatsu S.: Activity of daily living for Morquio A syndrome. Mol Genet Metab. 118, 111-122, 2016
  18. Erdol S., Ture M., Yakut T., Saglam H., Sasai H., Abdelkreem E., Otsuka H., Fukao T.: A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis. Journal of Inborn Errors of Metabolism & Screening. 4, 232640981665128, 2016
  19. Abe J., Umetsu R., Mataki K., Kato Y., Ueda N., Nakayama Y., Hane Y., Matsui T., Hatahira H., Sasaoka S., Motooka Y., Hara H., Kato Z., Kinosada Y., Inagaki N., Nakamura M.: Analysis of Stevens-Johnson syndrome and toxic epidermal necrolysis using the Japanese Adverse Drug Event Report database. J Pharm Health Care Sci. 2, 14, 2016
  20. Sawamoto K., Suzuki Y., Mackenzie W. G., Theroux M. C., Pizarro C., Yabe H., Orii K. E., Mason R. W., Orii T., Tomatsu S.: Current therapies for Morquio A syndrome and their clinical outcomes. Expert Opin Orphan Drugs. 4, 941-951, 2016
  21. Kato H., Ozeki M., Fukao T., Matsuo M.: Craniofacial CT findings of Gorham-Stout disease and generalized lymphatic anomaly. Neuroradiology. 58, 801-806, 2016
  22. Kato H., Matsuo M., Ozeki M., Fukao T.: Rebound adenoid hyperplasia after chemotherapy in pediatric patients with head and neck lymphoma: MR imaging findings. Jpn J Radiol. 34, 633-639, 2016
  23. Morita M., Matsumoto S., Okazaki A., Tomita K., Watanabe S., Kawaguchi K., Minato D., Matsuya Y., Shimozawa N., Imanaka T.: A novel method for determining peroxisomal fatty acid beta-oxidation. J Inherit Metab Dis. 39, 725-731, 2016
  24. Ohnishi H., Kawamoto N., Kaneko H., Kasahara K., Ohara O., Kato Z., Fukao T.: A case of selective IgG subclass deficiency with STAT3 mutation. Allergol Int. 65, 495-497, 2016
  25. Matsumoto H., Ozeki M., Hori T., Kanda K., Kawamoto N., Nagano A., Azuma E., Miyazaki T., Fukao T.: Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy. J Pediatr Hematol Oncol. 38, e322-e325, 2016
  26. Motobayashi M., Morita D., Kurata T., Shigemura T., Nakazawa Y., Shimozawa N., Inaba Y.: Serial Monitoring of Plasma Levetiracetam Levels in a Child With Epilepsy Undergoing Cord Blood Transplantation. Pediatr Neurol. 64, e5-e6, 2016
  27. Otsuka H., Sasai H., Nakama M., Aoyama Y., Abdelkreem E., Ohnishi H., Konstantopoulou V., Sass J. O., Fukao T.: Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site. Mol Med Rep. 14, 4906-4910, 2016
  28. Ozeki M., Nozawa A., Hori T., Kanda K., Kimura T., Kawamoto N., Fukao T.: Propranolol for infantile hemangioma: Effect on plasma vascular endothelial growth factor. Pediatr Int. 58, 1130-1135, 2016
  29. Tsujita Y., Mitsui-Sekinaka K., Imai K., Yeh T. W., Mitsuiki N., Asano T., Ohnishi H., Kato Z., Sekinaka Y., Zaha K., Kato T., Okano T., Takashima T., Kobayashi K., Kimura M., Kunitsu T., Maruo Y., Kanegane H., Takagi M., Yoshida K., Okuno Y., Muramatsu H., Shiraishi Y., Chiba K., Tanaka H., Miyano S., Kojima S., Ogawa S., Ohara O., Okada S., Kobayashi M., Morio T., Nonoyama S.: Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase delta syndrome-like immunodeficiency. J Allergy Clin Immunol. 138, 1672-1680 e1610, 2016
  30. Ueno H. M., Kato T., Ohnishi H., Kawamoto N., Kato Z., Kaneko H., Kondo N., Nakano T.: T-cell epitope-containing hypoallergenic beta-lactoglobulin for oral immunotherapy in milk allergy. Pediatr Allergy Immunol. 27, 818-824, 2016
  31. Abdelkreem E., Akella R. R., Dave U., Sane S., Otsuka H., Sasai H., Aoyama Y., Nakama M., Ohnishi H., Mahmoud S., Abd El Aal M., Fukao T.: Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. JIMD Rep. 2016
  32. Otsuka H., Sasai H., Abdelkreem E., Kawamoto N., Kawamoto M., Kamiya T., Tanimoto Y., Kikuchi A., Kure S., Numakura C., Hayasaka K., Fukao T.: Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests. Tohoku J Exp Med. 240, 323-328, 2016
  33. Mizutani Y., Okano T., Takahashi T., Ohnishi H., Ohara O., Sano A., Seishima M.: Pyoderma Gangrenosum, Acne and Suppurative Hidradenitis Syndrome Treated with Granulocyte and Monocyte Adsorption Apheresis. Acta Derm Venereol. 97, 275-276, 2017
  34. Kubaski F., Suzuki Y., Orii K., Giugliani R., Church H. J., Mason R. W., Dung V. C., Ngoc C. T., Yamaguchi S., Kobayashi H., Girisha K. M., Fukao T., Orii T., Tomatsu S.: Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Mol Genet Metab. 120, 247-254, 2017
  35. Takashima S., Toyoshi K., Itoh T., Kajiwara N., Honda A., Ohba A., Takemoto S., Yoshida S., Shimozawa N.: Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry. Mol Genet Metab. 120, 255-268, 2017
  36. Abdelkreem E., Alobaidy H., Aoyama Y., Mahmoud S., Abd El Aal M., Fukao T.: Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature. Egyptian Journal of Medical Human Genetics. 18, 199-203, 2017
  37. Kaneko H., Izumi R., Oda H., Ohara O., Sameshima K., Ohnishi H., Fukao T., Funato M.: Nationwide survey of BallerGerold syndrome in Japanese population. Mol Med Rep. 15, 3222-3224, 2017
  38. Yoshida N., Sakaguchi H., Muramatsu H., Okuno Y., Song C., Dovat S., Shimada A., Ozeki M., Ohnishi H., Teramoto T., Fukao T., Kondo N., Takahashi Y., Matsumoto K., Kato K., Kojima S.: Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia. Leukemia. 31, 1221-1223, 2017
  39. Aoyama Y., Sasai H., Abdelkreem E., Otsuka H., Nakama M., Kumar S., Aroor S., Shukla A., Fukao T.: A novel mutation (c.12113T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene. Mol Med Rep. 15, 3879-3884, 2017
  40. Kawamoto N., Kamemura N., Kido H., Fukao T.: Detection of ovomucoid-specific low-affinity IgE in infants and its relationship to eczema. Pediatr Allergy Immunol. 28, 355-361, 2017
  41. Akagawa S., Fukao T., Akagawa Y., Sasai H., Kohdera U., Kino M., Shigematsu Y., Aoyama Y., Kaneko K.: Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression. JIMD Rep. 32, 81-85, 2017
  42. Kagawa R., Fujiki R., Tsumura M., Sakata S., Nishimura S., Itan Y., Kong X. F., Kato Z., Ohnishi H., Hirata O., Saito S., Ikeda M., El Baghdadi J., Bousfiha A., Fujiwara K., Oleastro M., Yancoski J., Perez L., Danielian S., Ailal F., Takada H., Hara T., Puel A., Boisson-Dupuis S., Bustamante J., Casanova J. L., Ohara O., Okada S., Kobayashi M.: Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants. J Allergy Clin Immunol. 140, 232-241, 2017
  43. Ozeki M., Nozawa A., Kanda K., Hori T., Nagano A., Shimada A., Miyazaki T., Fukao T.: Everolimus for Treatment of Pseudomyogenic Hemangioendothelioma. J Pediatr Hematol Oncol. 39, e328-e331, 2017
  44. Yamamoto T., Endo W., Ohnishi H., Kubota K., Kawamoto N., Inui T., Imamura A., Takanashi J. I., Shiina M., Saitsu H., Ogata K., Matsumoto N., Haginoya K., Fukao T.: The first report of Japanese patients with asparagine synthetase deficiency. Brain Dev. 39, 236-242, 2017

原著論文(英語・2015年):

  1. Kubota K., Saito Y., Ohba C., Saitsu H., Fukuyama T., Ishiyama A., Saito T., Komaki H., Nakagawa E., Sugai K., Sasaki M., Matsumoto N.: Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation. Brain Dev. 37, 158-162, 2015
  2. Mizuno Y., Kato G., Shu E., Ohnishi H., Fukao T., Ohara O., Fukumoto H., Katano H., Seishima M.: Merkel cell polyomavirus-positive Merkel cell carcinoma in a patient with epidermodysplasia verruciformis. Acta Derm Venereol. 95, 98-99, 2015
  3. Hori T., Yamaguchi S., Shinkaku H., Horikawa R., Shigematsu Y., Takayanagi M., Fukao T.: Inborn errors of ketone body utilization. Pediatr Int. 57, 41-48, 2015
  4. Tanjuakio J., Suzuki Y., Patel P., Yasuda E., Kubaski F., Tanaka A., Yabe H., Mason R. W., Montano A. M., Orii K. E., Orii K. O., Fukao T., Orii T., Tomatsu S.: Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Mol Genet Metab. 114, 161-169, 2015
  5. Shimada T., Tomatsu S., Mason R. W., Yasuda E., Mackenzie W. G., Hossain J., Shibata Y., Montano A. M., Kubaski F., Giugliani R., Yamaguchi S., Suzuki Y., Orii K. E., Fukao T., Orii T.: Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB. JIMD Rep. 21, 1-13, 2015
  6. Ebisawa M., Terada A., Sato K., Kurosaka F., Kondo N., Sugizaki C., Morikawa A., Nishima S., Urashima M.: Intermittent and episode-driven use of pranlukast to reduce the frequency of wheezing in atopic children: a randomized, double-blind, placebo-controlled trial. World Allergy Organ J. 8, 11, 2015
  7. Aoyama Y., Yamamoto T., Sakaguchi N., Ishige M., Tanaka T., Ichihara T., Ohara K., Kouzan H., Kinosada Y., Fukao T.: Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Int J Mol Med. 35, 1554-1560, 2015
  8. Vatanavicharn N., Yamada K., Aoyama Y., Fukao T., Densupsoontorn N., Jirapinyo P., Sathienkijkanchai A., Yamaguchi S., Wasant P.: Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. Brain Dev. 37, 698-703, 2015
  9. Takahashi T., Fujisawa T., Kimura M., Ohnishi H., Seishima M.: Familial Mediterranean fever variant with repeated atypical skin eruptions. J Dermatol. 42, 903-905, 2015
  10. Odajima H., Ebisawa M., Nagakura T., Fujisawa T., Akasawa A., Ito K., Doi S., Yamaguchi K., Katsunuma T., Kurihara K., Kondo N., Sugai K., Nambu M., Hoshioka A., Yoshihara S., Sato N., Seko N., Nishima S.: Omalizumab in Japanese children with severe allergic asthma uncontrolled with standard therapy. Allergol Int. 64, 364-370, 2015
  11. Ueda N., Umetsu R., Abe J., Kato Y., Nakayama Y., Kato Z., Kinosada Y., Nakamura M.: Analysis of Neuropsychiatric Adverse Events in Patients Treated with Oseltamivir in Spontaneous Adverse Event Reports. Biol Pharm Bull. 38, 1638-1644, 2015
  12. Kubota K., Shimizu-Motohashi Y., Saito T., Akatsuka S., Takeshita E., Ishiyama A., Komaki H., Nakagawa E., Sugai K., Sasaki M.: The long-term health impact and potential predictors of cardiopulmonary arrest in patients with childhood-onset psychomotor impairments. Brain Dev. 2015
  13. Yamamoto H., Natsume J., Kidokoro H., Ishihara N., Suzuki M., Tsuji T., Kubota T., Yamada A., Ozeki M., Kato Z., Kawamura Y., Yoshikawa T., Okumura A., Ando N., Saitoh S., Takahashi Y., Watanabe K., Kojima S.: Clinical and neuroimaging findings in children with posterior reversible encephalopathy syndrome. Eur J Paediatr Neurol. 19, 672-678, 2015
  14. Shikano H., Ohnishi H., Fukutomi H., Ito K., Morimoto M., Teramoto T., Aoki M., Nishihori T., Akeda Y., Oishi K., Fukao T.: Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens. Pediatr Int. 2015
  15. Otsuka H., Ozeki M., Kanda K., Hori T., Kawamoto N., Saigo C., Kato H., Makita H., Shibata T., Fukao T.: Complete bone regeneration in hemophilic pseudotumor of the mandible. Pediatr Int. 2015
  16. Ohba C., Haginoya K., Osaka H., Kubota K., Ishiyama A., Hiraide T., Komaki H., Sasaki M., Miyatake S., Nakashima M., Tsurusaki Y., Miyake N., Tanaka F., Saitsu H., Matsumoto N.: De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. J Hum Genet. 60, 739-742, 2015
  17. Sasai H., Shimozawa N., Asano T., Kawamoto N., Yamamoto T., Kimura T., Kawamoto M., Matsui E., Fukao T.: Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine beta-Synthase Deficiency. Tohoku J Exp Med. 237, 323-327, 2015
  18. Nozawa A., Ozeki M., Kuze B., Asano T., Matsuoka K., Fukao T.: Gorham-Stout Disease of the Skull Base With Hearing Loss: Dramatic Recovery and Antiangiogenic Therapy. Pediatr Blood Cancer. 2015
  19. Ozeki M., Fujino A., Matsuoka K., Nosaka S., Kuroda T., Fukao T.: Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. Pediatr Blood Cancer. 2016
  20. Ohuchi K., Funato M., Kato Z., Seki J., Kawase C., Tamai Y., Ono Y., Nagahara Y., Noda Y., Kameyama T., Ando S., Tsuruma K., Shimazawa M., Hara H., Kaneko H.: Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog. Stem Cells Transl Med. 5, 152-163, 2016

原著論文(日本語・2015年):

  1. 西城 卓也, 大江 直行, 池田 貴英, 牛越 博昭, 白橋 幸洋, 高杉 信寛, 松橋 延壽, 矢野 竜一朗, 渡邉 珠代, 鈴木 康之: 国際認証の時代における臨床系教員養成のあり方 マギル大学での臨床教育研修プログラムの事例検討. 医学教育. 46, 69-77, 2015
  2. 濱 弘太郎, 藤原 優子, 松本 隼, 守田 雅志, 今中 常雄, 下澤 伸行, 横山 和明: 多段階MRMモードを用いたAbcd1ノックアウトマウスの脳の脂質解析. 脂質生化学研究. 57, 144-145, 2015
  3. 松隈 英治, 上野 裕太郎, 湯澤 壮太郎, 小嶋 瑛美子, 松波 邦洋, 桑原 秀次, 松尾 直樹, 今村 淳, 松井 永子, 西村 悟子, 内木 洋子: 腎代替療法として何も選択しなかったJoubert症候群の1女児例. 日本小児腎不全学会雑誌. 35, 232-235, 2015
  4. 川上 ちひろ, 西城 卓也, 藤崎 和彦, 鈴木 康之: 問題をもつ学習者の"問題"とは何か 系統的文献検索. 医学教育. 46, 365-371, 2015
  5. 久保田 一生, 仲村 貞郎, 稲垣 真澄, 中川 栄二: 注意欠如・多動性障害における脳波異常と薬物治療の検討. 小児科臨床. 68, 2083-2088, 2015

総説(日本語・2015年):

  1. 松井 永子: 【アレルギー疾患治療の有効性評価】 小児科 QOLからの評価. アレルギー・免疫. 22, 234-240, 2015
  2. 深尾 敏幸: 【慢性疾患をもつ子どもの成人へのtransition】 長期予後と成人後の医学的問題 先天代謝異常症. 日本医師会雑誌. 143, 2121-2124, 2015
  3. 下澤 伸行: 見逃してはならない治療法のある、あるいは今後期待できる小児神経疾患 診断と治療の最前線 副腎白質ジストロフィー. 脳と発達. 47, 117-121, 2015
  4. 加藤 善一郎: 患者によりそうサイエンス 先端科学と臨床現場をつなぐもの 構造医学からのアプローチ. 日本小児アレルギー学会誌. 29, 23-33, 2015
  5. 川上 ちひろ, 西城 卓也, 今福 輪太郎, 村岡 千種, 藤崎 和彦, 丹羽 雅之, 鈴木 康之: 施設を超える、職種を超える 多施設合同学生向け多職種連携教育課外セミナーに取り組んだ3年間. 医学教育. 46, 178-184, 2015
  6. 小関 道夫, 藤野 明浩, 黒田 達夫, 濱田 健一郎, 中村 直子, 高橋 正貴, 松岡 健太郎, 野坂 俊介, 深尾 敏幸: Lecture リンパ管腫症・ゴーハム病の診断と治療. 臨床整形外科. 50, 531-539, 2015
  7. 堀 友博, 深尾 敏幸: 【骨格筋症候群(第2版)-その他の神経筋疾患を含めて-下】 先天代謝異常によるミオパチー 先天性筋脂質代謝異常症 ミトコンドリア脂肪酸β酸化異常 中鎖・短鎖脂肪酸β酸化回路異常症 3-ヒドロキシアシル-CoA脱水素酵素欠損症(HADH欠損症). 日本臨床. 別冊, 109-113, 2015
  8. 折居 建治, 深尾 敏幸: 【骨格筋症候群(第2版)-その他の神経筋疾患を含めて-下】 先天代謝異常によるミオパチー 先天性筋脂質代謝異常症 ミトコンドリア脂肪酸β酸化異常 中鎖・短鎖脂肪酸β酸化回路異常症 中鎖アシル-CoA脱水素酵素欠損症(MCAD欠損症). 日本臨床. 別冊, 101-104, 2015
  9. 深尾 敏幸: 【骨格筋症候群(第2版)-その他の神経筋疾患を含めて-下】 先天代謝異常によるミオパチー 先天性筋脂質代謝異常症 ミトコンドリア脂肪酸β酸化異常 中鎖・短鎖脂肪酸β酸化回路異常症 短鎖アシル-CoA脱水素酵素(SCAD)欠損症. 日本臨床. 別冊, 105-108, 2015
  10. 笹井 英雄, 深尾 敏幸: 【骨格筋症候群(第2版)-その他の神経筋疾患を含めて-下】 先天代謝異常によるミオパチー 先天性筋脂質代謝異常症 ミトコンドリア脂肪酸β酸化異常 中鎖・短鎖脂肪酸β酸化回路異常症 β-ケトチオラーゼ欠損症(ミトコンドリアアセトアセチル-CoAチオラーゼ欠損症). 日本臨床. 別冊, 114-120, 2015
  11. 藤野 明浩, 小関 道夫, 上野 滋, 岩中 督, 木下 義晶, 野坂 俊介, 松岡 健太郎, 森川 康英, 黒田 達夫: 【トランジション】 リンパ管腫とリンパ管腫症・ゴーハム病の成人例の実際. 小児外科. 47, 775-782, 2015
  12. 近藤 直実, 小玉 ひとみ, 熊田 ますみ, 近藤 邦代, 長田 登美子, 樋田 小百合, 平澤 園子, 松野 ゆかり, 古田 弥生, 古川 美紀子, 三品 弘司, 林 久美子, 大橋 淳子, 篠田 晃子, 吉崎 純夫, 熊澤 恵美, 田中 千絵, 青木 郁子, 岩瀬 桃子, 森岡 菜穂子, 桑原 愛美: 食物アレルギーの最新の動向と保育園における対応. 保育と保健. 21, 35-40, 2015
  13. 玉井 裕也, 金子 英雄: 【家族性腫瘍学-家族性腫瘍の最新研究動向-】 症候群 Bloom syndrome(ブルーム症候群). 日本臨床. 73, 70-74, 2015
  14. 折居 建治: 【ハイリスク新生児 栄養管理・母乳育児 Q&A】(第3章)ステップアップ!状態・疾患別 NICUでの栄養管理 先天代謝異常症の児が入院してきたのですが、まれな疾患なので、どのように栄養管理を行えばよいか分かりません. Neonatal Care. 113-120, 2015
  15. 小関 道夫, 藤野 明浩, 松岡 健太郎, 野坂 俊介, 深尾 敏幸: リンパ管腫症・ゴーハム病. 日本臨床. 73, 1777-1788, 2015
  16. 下澤 伸行: 【これからの小児医療-小児科医はどこに向かうのか-】 小児科医としてどうかかわるか 小児希少疾患 診断と難病対策. 小児科臨床. 68, 2249-2252, 2015
  17. 鈴木 康之: 【これからの小児医療-小児科医はどこに向かうのか-】 医学教育はどう変わるべきか 学部教育. 小児科臨床. 68, 2195-2201, 2015
  18. 大西秀典、金子英雄: IgGサブクラス欠損症およびIgA欠損症. 小児内科.47巻増刊号, 718-721, 2015
  19. 加藤 善一郎: 不登校への小児科からのアプローチ ~ 発達特性と「だいじょうぶ感」 ~. 障害支援研究. 16, 1-14, 2015