１助教授¥田中あけみ¥医学博士¥1952¥大阪市立大・院・医学・博¥小児科学 Assoc.Prof.¥TANAKA, Akemi,¥Doctor of Medicine,¥1952,¥Osaka City Univ.,¥Pediatrics ２【研究課題】先天性代謝異常症,Inborn errors of metabolism;先天性代謝異常症の遺伝子治療,Gene therapy of inborn errrors of metabolism;先天性症謝異常症の遺伝子解析,Molecular analysis of inborn errors of metabolism 【研究業績】【論文】Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry., 共 (Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, et al.),Mol Genet Metab,85,pp.196-202,('05);Keratan sulfate levels in mucopolysaccharidoses and mucolipidoses.,共(Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon SV, et al.),J Inherit Metab Dis,28,pp.187-202,('05);Vesicular acetylcholine transporter can be a morphological marker for the reinnervation to muscle of regenerating mortor axons.,共(1) Maeda M, Ohba N, Nakagomi S, Suzuki Y, Kiryu-Seo S, et al.),Neuroscience Res,48,pp.305-314,('04);Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.,共(Teragaki M, Tanaka A, Akioka K, Hoang TNL, Nishi Y, et al.),Jap Heart J,45,pp.685-689,('04);Different attenuated phenotypes of GM2 gangliosoidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.,共(Tanaka A, Hoang TNL, Nishi Y, Maniwa S, Oka M, et al.),J Hum Genet,48,pp.582-589,('03);Structural basis of the GM2 gangliosidosis B variant., 共 (Matsuzawa F, Aikawa S, Sakuraba H, Hoang TNL, Tanaka A, et al.),J Hum Genet,48,pp.582-589,('03);Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer.,共(Takaura N, Yagi T, Maeda M, Nanba E, Oshima A, et al.),Gene Therapy,10,pp.1487-1493,('03);Molecular and structural studies if the GM2 gangliosidosis O variant., 共 (Sakuraba H, Matsuzawa F, Aikawa S, Doi H, kotani M, et al.),J Hum Genet,47,pp.176-183,('02);Molecular alalysis of the α-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIB (Sanfilippo type B), including two novel mutations.,共(Tanaka A, Kimura M, Hoang TNL, Takaura N, Yamano T),J Hum Genet,47,pp.484-489,('02);Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.,共(Utsumi K, Tsuji A, Kasa R. Tanaka A, Tanaka T, et al.),Acta Neurol Scad,105,pp.427-430,('02) 【学会活動】日本小児科学会;日本先天代謝異常学会;日本小児神経学会;日本人類遺伝学会;日本遺伝子治療学会;The Society for the Study of Inborn Errors of Metabolism;日本マス・スクリーニング学会;日本小児保健学会;日本未熟児新生児学会;日本結合組織学会;大阪小児科学会【社会活動等】日本ムコ多糖症親の会顧問医('89～) 【その他、特記すべきもの】大阪市長賞('91);大阪市長賞('84) ３５６７