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Items: 1 to 20 of 367

1.

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S.

Genet Med. 2018 Oct 19. doi: 10.1038/s41436-018-0340-x. [Epub ahead of print]

PMID:
30451973
2.

Hereditary clear cell meningiomas in a single family: three-cases report.

Inoue T, Shitara S, Ozeki M, Nozawa A, Fukao T, Fukushima T.

Acta Neurochir (Wien). 2018 Nov 13. doi: 10.1007/s00701-018-3727-1. [Epub ahead of print]

PMID:
30421029
3.

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E.

J Hum Genet. 2018 Nov 5. doi: 10.1038/s10038-018-0524-x. [Epub ahead of print] Review.

PMID:
30393371
4.

Intramolecular interaction suggests an autosuppression mechanism for the innate immune adaptor protein MyD88.

Uno M, Watanabe-Nakayama T, Konno H, Akagi KI, Tsutsumi N, Fukao T, Shirakawa M, Ohnishi H, Tochio H.

Chem Commun (Camb). 2018 Oct 30;54(87):12318-12321. doi: 10.1039/c8cc06480f.

PMID:
30298869
5.

Steering bends and changing lanes: The impact of optic flow and road edges on two point steering control.

Okafuji Y, Mole CD, Merat N, Fukao T, Yokokohji Y, Inou H, Wilkie RM.

J Vis. 2018 Sep 4;18(9):14. doi: 10.1167/18.9.14.

6.

Critical review of current MPS guidelines and management.

Stapleton M, Hoshina H, Sawamoto K, Kubaski F, Mason RW, Mackenzie WG, Theroux M, Kobayashi H, Yamaguchi S, Suzuki Y, Fukao T, Tadao O, Ida H, Tomatsu S.

Mol Genet Metab. 2018 Jul 7. pii: S1096-7192(18)30358-5. doi: 10.1016/j.ymgme.2018.07.001. [Epub ahead of print] Review.

PMID:
30143438
7.

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Lee T, Misaki M, Shimomura H, Tanaka Y, Yoshida S, Murayama K, Nakamura K, Fujiki R, Ohara O, Sasai H, Fukao T, Takeshima Y.

Hum Genome Var. 2018 Aug 16;5:22. doi: 10.1038/s41439-018-0022-x. eCollection 2018.

8.

Efficacy of sirolimus in an infant with Kasabach-Merritt phenomenon.

Kumagai C, Ozeki M, Nozawa A, Kakuda H, Fukao T.

Pediatr Int. 2018 Sep;60(9):887-889. doi: 10.1111/ped.13630. Epub 2018 Aug 8. No abstract available.

PMID:
30088308
9.

Prophylactic Effect of Polaprezinc, a Zinc-L-carnosine, Against Chemotherapy-induced Oral Mucositis in Pediatric Patients Undergoing Autologous Stem Cell Transplantation.

Funato M, Ozeki M, Suzuki A, Ishihara M, Kobayashi R, Nozawa A, Yasue S, Endo-Ohnishi S, Fukao T, Itoh Y.

Anticancer Res. 2018 Aug;38(8):4691-4697. doi: 10.21873/anticanres.12775.

PMID:
30061237
10.

Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.

Osaki Y, Saito A, Kanemoto S, Kaneko M, Matsuhisa K, Asada R, Masaki T, Orii K, Fukao T, Tomatsu S, Imaizumi K.

Cell Death Dis. 2018 Jul 24;9(8):808. doi: 10.1038/s41419-018-0871-8.

11.

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH, Niu DM, Hoffmann GF, Shigematsu Y, Fukao T, Fukuda S, Taketani T, Yamaguchi S.

Mol Genet Metab Rep. 2018 May 21;16:5-10. doi: 10.1016/j.ymgmr.2018.05.003. eCollection 2018 Sep.

12.

Chest imaging in generalized lymphatic anomaly and kaposiform lymphangiomatosis.

Kato H, Ozeki M, Fukao T, Matsuo M.

Pediatr Int. 2018 Jun 20. doi: 10.1111/ped.13593. [Epub ahead of print] No abstract available.

PMID:
29923669
13.

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.

Khan SA, Mason RW, Giugliani R, Orii K, Fukao T, Suzuki Y, Yamaguchi S, Kobayashi H, Orii T, Tomatsu S.

Mol Genet Metab. 2018 Sep;125(1-2):44-52. doi: 10.1016/j.ymgme.2018.04.011. Epub 2018 May 17.

PMID:
29779903
14.

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.

Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S.

Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Review.

PMID:
29779902
15.

Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.

Nakama M, Otsuka H, Ago Y, Sasai H, Abdelkreem E, Aoyama Y, Fukao T.

Gene. 2018 Jul 20;664:84-89. doi: 10.1016/j.gene.2018.04.064. Epub 2018 Apr 23.

PMID:
29698748
16.

Physiology, gene expression, and metabolome of two wheat cultivars with contrasting submergence tolerance.

Herzog M, Fukao T, Winkel A, Konnerup D, Lamichhane S, Alpuerto JB, Hasler-Sheetal H, Pedersen O.

Plant Cell Environ. 2018 Jul;41(7):1632-1644. doi: 10.1111/pce.13211. Epub 2018 May 16.

PMID:
29664146
17.

Growth impairment in mucopolysaccharidoses.

Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S.

Mol Genet Metab. 2018 May;124(1):1-10. doi: 10.1016/j.ymgme.2018.03.004. Epub 2018 Mar 16. Review.

PMID:
29627275
18.

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.

Yamada K, Shiraishi H, Oki E, Ishige M, Fukao T, Hamada Y, Sakai N, Ochi F, Watanabe A, Kawakami S, Kuzume K, Watanabe K, Sameshima K, Nakamagoe K, Tamaoka A, Asahina N, Yokoshiki S, Miyakoshi T, Ono K, Oba K, Isoe T, Hayashi H, Yamaguchi S, Sato N.

Mol Genet Metab Rep. 2018 Feb 22;15:55-63. doi: 10.1016/j.ymgmr.2018.02.003. eCollection 2018 Jun.

19.

Genetic background and therapeutic response in generalized pustular psoriasis patients treated with granulocyte and monocyte adsorption apheresis.

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.

Eur J Dermatol. 2018 Feb 1;28(1):108-111. doi: 10.1684/ejd.2017.3174. No abstract available.

PMID:
29380726
20.

[A Case of Anal Canal Squamous Cell Carcinoma Detected with Anal Stenosis Eight Years Following Resection for Rectal Adenocarcinoma].

Fukao T, Matsumoto T, Kuriyama S, Toji T, Hirano Y, Ohtawa Y, Waku T, Washio K.

Gan To Kagaku Ryoho. 2018 Jan;45(1):63-65. Japanese.

PMID:
29362310

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