日本スクリーニング研究所

- 2019年の活動
- 最近の発表論文

2019年の活動

講演など

2019.7.17	兵庫医科大学大学院講義「先天性代謝異常症のスクリーニングと治療」
2019.6.22	ポンペ病研究会ポンペ病の新生児スクリーニング（東京）講演
2019.6.16	大阪地区新規スクリーニング会議（神戸）「遺伝性疾患の新規スクリーニングの進め方」講演
2019.6.9	九州スクリーニング研究会（熊本）「希少疾病の新規新生児スクリーニングの現状と発展について」講演
2019.5.31	基礎と臨床のアミノ酸セミナー（東京）「アミノ酸の安全性と先天代謝異常症」講演
2019.5.18	GD and ASMD　emerging leader meeting（東京）
2019.3.9	脊髄性筋萎縮症講演会（東京）新規拡大スクリーニングについて（講演）
2019.1.26	座談会「新生児スクリーニング対象疾患の拡大の現状と課題解決に向けて」(東京)

論文リスト（遠藤文夫）

Urea cycle disorders-update.

Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K.

J Hum Genet. 2019

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K.

J Hum Genet. 2019 May 10.

Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease.

Kitani Y, Nakagawa N, Sakamoto N, Takeuchi T, Takahashi F, Momosaki K, Nakamura K, Endo F, Maruyama H, Hasebe N.

Circ J. 2019 Jan 25;83(2):481-484.

Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.

Kido J, Matsumoto S, Mitsubuchi H, Endo F, Nakamura K.

Metab Brain Dis. 2018 Oct;33(5):1517-1523.

LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation.

Anan K, Hino S, Shimizu N, Sakamoto A, Nagaoka K, Takase R, Kohrogi K, Araki H, Hino Y, Usuki S, Oki S, Tanaka H, Nakamura K, Endo F, Nakao M.

Nucleic Acids Res. 2018 Jun 20;46(11):5441-5454.

High-risk screening for Gaucher disease in patients with neurological symptoms.

Momosaki K, Kido J, Matsumoto S, Yoshida S, Takei A, Miyabayashi T, Sugawara K, Endo F, Nakamura K.

J Hum Genet. 2018 Jun;63(6):717-721.

Tyrosinemia Type I in Japan: A Report of Five Cases.

Nakamura K, Ito M, Shigematsu Y, Endo F.

Adv Exp Med Biol. 2017;959:133-138.

Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.

Kido J, Matsumoto S, Momosaki K, Sakamoto R, Mitsubuchi H, Endo F, Nakamura K.

Pediatr Transplant. 2017 Sep;21(6).

Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.

Yoshida T, Kido J, Mitsubuchi H, Matsumoto S, Endo F, Nakamura K.

Hum Genome Var. 2017 Jun 1;4:17020.

Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency.

Kido J, Kawasaki T, Mitsubuchi H, Kamohara H, Ohba T, Matsumoto S, Endo F, Nakamura K.

World J Hepatol. 2017 Feb 28;9(6):343-348.

Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.

Nagamatsu K, Sekijima Y, Nakamura K, Nakamura K, Hattori K, Ota M, Shimizu Y, Endo F, Ikeda SI.

J Hum Genet. 2017 Jul;62(7):665-670.

Pulmonary artery hypertension in methylmalonic acidemia.

Kido J, Mitsubuchi H, Sakanashi M, Matsubara J, Matsumoto S, Sakamoto R, Endo F, Nakamura K.

Hemodial Int. 2017 Apr;21(2):E25-E29.

Clinical and genetic features of lysinuric protein intolerance in Japan.

Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T.

Prenatal diagnosis of Gaucher disease using next-generation sequencing.

Yoshida S, Kido J, Matsumoto S, Momosaki K, Mitsubuchi H, Shimazu T, Sugawara K, Endo F, Nakamura K.

Pediatr Int. 2016 Sep;58(9):946-9.

Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant.

Sakamoto R, Nakamura K, Kido J, Matsumoto S, Mitsubuchi H, Inomata Y, Endo F.

Pediatr Transplant. 2016 Dec;20(8):1081-1086.