原著2020年

Unita S, Hirashima N, Shimada M, Tsunekawa T, Tanaka D, Kondo T, Urata N, Kondo H, Saito M, Iwase H, Ito S, Togawa T, Saitoh S, Tanaka Y. Successful treatment of adult-onset type II citrullinemia with a low-carbohydrate diet and L-arginine after DNA analysis produced a definitive diagnosis.  Clin J
Gastroenterol. 13(5): 823-833; 2020
Mizutani A, Sabu Y, Naoi S, Ito S, Nakano S, Minowa K, Mizuochi T, Ito K, Abukawa D, Kaji S, Sasaki M, Muroya K, Azuma Y, Watanabe S, Oya Y, Inomata Y, Fukuda A, Kasahara M, Inui A, Takikawa H, Kusuhara H, Bessho K, Suzuki M, Togawa T, Hayashi H. Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte‐Derived Macrophages. Hepatol Commun.. 26(1): 52-62; 2020
Okamoto T, Sonoda M, Ogawa E, Ito S, Togawa T, Hayashi H, Okajima H, Uemoto S. Long-Term Outcomes of Living-Donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1 J Pediatr Gastroenterol Nutr. Online ahead of print.
Kada A, Fukano R., Mori T., Kamei M., Tanaka F., Ueyama J., Sekimizu M., Osumi T., Mori T., Koga Y., Ohki K., Fujita N., Mitsui T., Saito A. M., Hashimoto H.,Kobayashi R. A Multicenter, Open-label, Clinical Trial to Assess the Effectiveness and Safety of Allogeneic Hematopoietic Stem Cell Transplantation Using Reduced-intensity Conditioning in Relapsed/refractory Anaplastic Large-cell Lymphoma in Children.
Acta Med. Okayama.  74: 89-94; 2020 Online ahead of print.
Kada A, Fukano R., Mori T., Kamei M., Tanaka F., Ueyama J., Sekimizu M., Osumi T., Mori T., Koga Y A Multicenter, Open-label, Clinical Trial to Assess the Effectiveness and Safety of Allogeneic Hematopoietic Stem Cell Transplantation Using Reduced-intensity Conditioning in Relapsed/refractory Anaplastic Large-cell Lymphoma in Children.
Acta Med. Okayama. 74: 89-94; 2020
Okamura J., Miyake Y., Kamei M., Ito Y.,Matsubayashi T.  Three infants with megaloblastic anemia caused by maternal vitamin B 12 deficiency.  Pediatr. Int. .
Tsumura A, Okuyama T., Ito Y., Kondo M., Saitoh S., Kamei M., Sato I., Ishida Y., Kato Y., Takeda Y.,Akechi T.  Reliability and validity of a Japanese version of the psychosocial assessment tool for families of children with cancer.  Jpn. J. Clin. Oncol. . 50: 296-302; 2020
Suzuki K, Kato T, Koyama S, Shinohara T, Inukai S, Sato J, Yamamoto H, Omori D, Yoshida S, Takeda S, Nishikawa H, Ohashi N, Sakurai H, Saitoh S Influence of Percutaneous Occlusion of Atrial Septal Defect on Left Atrial Function Evaluated Using 2D Speckle Tracking Echocardiography. Int Heart J. 2020 Jan 17.
Kato S, Osuke Iwata, Yasumasa Yamada, Hiroki Kakita, Takaharu Yamada, Hideyuki Nakashima, Tokio Sugiura, Satoshi Suzuki, Hajime Togari  Standardization of phototherapy for neonatal hyperbilirubinemia using multiple-wavelength irradiance integration Pediatrics & Neonatology. 61(1): 100-105; 2020
Okada J , Hisano T, Unno M, Tanaka Y, Saikusa M, Kinoshita M, Harada E, Iwata S, Iwata O Video-call based newborn triage system for local birth centres can be established without major instalment costs using commercially available smartphones. Sci Rep.. May 5;10(1):7552.
Suzuki T, Takao Togawa, Hitoshi Kanno, Hiromi Ogura, Toshiyuki Yamamoto,Takahiro Sugiura, Masanori Kouwaki, Shinji Saitoh. A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice with Hemolytic Anemia from Hereditary Pyropoikilocytosis Coexisting with Gilbert Syndrome. J Pediatr Hematol Oncol.. 2020 Apr 13.
Komaki H, Maegaki Y, Matsumura T, Shiraishi K, Awano H, Nakamura A, Kinoshita S, Ogata K, Ishigaki K, Saitoh S, Funato M, Kuru S, Nakayama T, Iwata Y, Yajima H, Takeda S. Early phase 2 trial of TAS-205 in patients with Duchenne muscular
dystrophy. Ann Clin Transl Neurol. 7(2): 181-190; 2020.
Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.  Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. J Med Genet. 57 : 245-253; 2020.
Kondo Y, Aoyama K, Suzuki H, Hattori A, Hori I, Ito K, Yoshida A, Koroki M, Ueda K, Kosaki K, Saitoh S. De Novo 2q36.3q37.1 Deletion Encompassing TRIP12 and NPPC Yields Distinct Phenotypes Hum Genome Var. 2020 Jun 1;7:19. eCollection 2020.
Ieda D, Negishi Y, Miyamoto T, Johmura Y, Kumamoto N, Kato K, Miyoshi I, Nakanishi M, Ugawa S, Oishi H, Saitoh S. Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes. PLoS One. 2020;15(8):e0237814.
Yamaguchi N, Ban K, Suzuki A, Nakamura Y, Kato K, Muramatsu H, Okuno Y, Hattori A, Kaname T, Takahashi Y, Saitoh S. Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum Brain and Dev. 42: 298-301; 2020.
Tanaka T, Aoyama K, Suzuki A, Saitoh S, Mizuno H. Clinical and Genetic Investigation of 136 Japanese Patients With Congenital Hypothyroidism J Pediatr Endocrinol Metab. 2020 May 29;33(6):691-701.
Takeda R, Takeda R, Kamei M, Hattori T, Ito Y, Yazaki M, Matsubayashi T, Saitoh S A case of infantile acute lymphoblastic leukemia with bilateral intraocular relapse Nagoya Medical Journal. Vol.56・221-227・2020
Uematsu M, Numata-Uematsu Y, Aihara Y, Kobayashi T, Fujikawa M, Togashi N, Shiihara T, Ohashi K, Hattori A, Saitoh S, Kure S. Behavioral problems and family distress in tuberous sclerosis complex. Epilepsy Behav. 111:107321, 2020.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Prenatal clinical manifestations in individuals withCOL4A1/2 variants. J Med Genet. 2020 Jul 30 Epub ahead of print
Yamada H, Tamasaki A, Oguri M, Hori I, Saitoh S, Maegaki Y Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome. Epileptic Disord. 2020 Oct 21 Epub ahead of print

[記事公開日]2020/07/07
[最終更新日]2021/05/07