All 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 Other
All Journal Article Presentation Book
JIMD Rep
Volume: 38 Pages: 67-74
10.1007/8904_2017_32
Lipids
Volume: 53 Pages: 85-102
10.1002/lipd.12022
J Neurol Sci
Volume: 375 Pages: 424-429
10.1016/j.jns.2017.02.058
Neuro Endocrinol Lett
Volume: 38 Pages: 13-18
Mol Genet Metab
Volume: 120 Pages: 255-268
10.1016/j.ymgme.2016.12.013
Neuro Endocrinol Lett.
Journal of the Neurological Sciences
Volume: 381 Pages: 107-109
10.1016/j.jns.2017.08.018
120006382257
Pediatrics
Volume: 137
10.1542/peds.2015-3102
Pediatric Neurology
Volume: 64
10.1016/j.pediatrneurol.2016.07.009
J Inherit. Metab. Dis.
Volume: 39 Pages: 725-731
10.1007/s10545-016-9952-y
脳と発達
Volume: 47 Pages: 117-121
130005005771
Pediatrics International
Volume: 57 Pages: 1189-1192
10.1111/ped.12713
Tohoku J. Exp. Med.
Volume: 237 Issue: 4 Pages: 323-327
10.1620/tjem.237.323
130005112236
小児科診療
Volume: 77 Pages: 548-551
別冊日本臨床 新領域別症候群シリーズ 神経症候群Ⅲ
Volume: 28 Pages: 728-736
10005659669
Am J Analytical Chemistry
Volume: 5 Pages: 359-366
10.4236/ajac.2014.56043
別冊日本臨床 新領域別症候群シリーズ 神経症候群Ⅳ
Volume: 31 Pages: 229-236
Neuro-Ophthalmology
Volume: 38 Pages: 331-335
International Journal of Pediatric Endocrinology
Volume: supple 1 Pages: 127-127
Neurogenetics.
Volume: 14 Pages: 225-232
10.1007/s10048-013-0375-8
PLoS genet
Volume: 9
10.1371/journal.pgen.1003286
Volume: 76 Pages: 35-43
Volume: 48 Pages: 1253-1267
10.1007/s11745-013-3848-5
Volume: in press
Neuropathology
Volume: 33 Pages: 292-298
10.1111/j.1440-1789.2012.01348.x
Brain Dev
Volume: 35 Pages: 842-848
10.1016/j.braindev.2012.10.017
東京女子医科大学雑誌
Volume: 83
小児内科
Volume: 44 Pages: 1667-1672
J Lipid Res
Volume: 53 Pages: 653-63
10.1194/jlr.m021204
Brain Medical
Volume: 24 Pages: 261-270
Pediatr Int
Volume: 54 Pages: 303-304
10.1111/j.1442-200x.2012.03562.x
Current Drug Targets
Volume: 12 Pages: 694-706
Neurogenetics
Volume: 12 Pages: 41-50
10.1007/s10048-010-0253-6
J Hum Genet
Volume: 56 Pages: 106-109
10.1038/jhg.2010.139
10030657695
Volume: (In press)
Clin Genet
Volume: 79 Pages: 60-70
10.1111/j.1399-0004.2010.01498.x
Molecular Medicine Reports
Volume: 4 Pages: 1157-1162
10.3892/mmr.2011.560
120006341978
Volume: 33 Pages: 770-776
10.1016/j.braindev.2011.03.004
10031121990
肝・胆道系症候群(第2版)
Pages: 515-518
Endocrine Journal
Volume: 57 Issue: 11 Pages: 965-972
10.1507/endocrj.k10e-204
10.1507/endocrj.K10E-204
130004443590
Volume: 42巻 Pages: 1167-1173
Pages: 515-517
日本先天代謝異常学会雑誌
Volume: 26巻 Pages: 2-12
小児科臨床
Volume: 62巻 Pages: 457-461
小児科特集「小児疾患における臨床遺伝学の進歩」
Volume: 50巻 Pages: 907-913
小児科 41増刊号
Pages: 479-486
小児内科小児疾患診療のための病態生理2
Volume: 41巻 Pages: 479-486
Am J Med Genet
Volume: 149A Pages: 1219-1223
10.1002/ajmg.a.32874
J Lipid Res 49
Pages: 1855-1862
Brain & Development 30
Pages: 477-482
10025577496
Neuroscience let 442
Pages: 4-9
J Inher Metab Dis 30
Pages: 193-197
J. Neurochem
Pages: 1632-1643
J Inher Metab Dis 30 (2)
FEBS Journal 273 (21)
Pages: 4959-4971
Brain ＆ Development 28
Pages: 287-292
10020330709
小児科診療 69
Pages: 1646-1652
Brain ＆ Development 28 (5)
FEBS Journal 273
Brain ＆ Development 27(5)
Pages: 353-357
10019356783
Pediatr Res 58
Pages: 263-269
FEBS Lett 579
Pages: 409-414
Child Neurol 20
Pages: 326-329
J Biochem 138
Pages: 781-790
10017349142
FEBS Lett. 579(2)
Pages: 409-14
Brain Dev 27
FEBS letter 579
Biochem Biophys Acta 1746
Pages: 116-128
Child Neurol 20(4)
Pediatr Res 58(2)
Pages: 263-9
Biochim Biophys Acta 1746
Pediatr Res 55
Pages: 431-436
Biochim Biophys Acta 1671
Pages: 26-33
J Biol Chem 279
Pages: 421-428
Hum Mutat 23
Pages: 552-558
Hum Mutat. 23(6)
Biochim Biophys Acta. 1671(1-3)
J Biol Chem. 279(1)
Am J Med Genet 120A
Pages: 40-43
Am J Hum Genet. 73(2)
Pages: 233-246
Am J Hum Genet 73
Adv Exp Med Biol (Kluwer Academic/Plenum Publishers, New York) 544
Pages: 71-71
Pediatr Res (in press)
J.Neurochem (in press)
J. Neurochem (in press)
J. Neurochem in press
内分泌・糖尿病・代謝内科
Volume: 34(3) Pages: 198-203
J Inher Metab Dis (in press)
Brain Dev (in press)
J Inher Metab Dis in press
