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Department Of Pediatrics Shimane University Faculty Of Medicine | 論文
- Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry
- A survey of Japanese patients with mitochondrial fatty acid β-oxidation and related disorders as detected from 1985 to 2000
- ライフログのためのマッシュアップAPIのDB実装とWebサービス化(情報セキュリティ,ライフログ活用技術,ライフインテリジェンス,オフィス情報システム,一般)
- ペルソナシナリオ法を用いた個人適応型省エネ行動の分析法(ホームネットワーク,ユビキタスネットワーク,クラウドコンピューティング,コンテキストアウェア,位置情報サービス,eコマース及び一般)
- Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS
- Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
- ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders
- KCNQ1遺伝子変異を伴う日本人小児QT延長症候群患者の臨床的、電気生理学的
- Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
- Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
- Novel mutation of methylmalonyl-CoA mutase gene causing the mut^0 form of methylmalonic acidemia in a Japanese girl
- Distal myopathy with rimmed vacuoles in a case of opercular syndrome
- Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
- Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography : A practical confirmatory test for tandem mass spectrometry newborn screening in Japan
- Serial magnetic resonance angiography in cerebral infarction after varicella infection
- A Variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect
- A case of West syndrome well controlled by very short and low-does ACTH therapy
- Prenatal and postnatal evaluation of Dandy-Walker malformation : a case report
- Brain holding spells in early infancy
- Clinical study of partial epilepsies occurring before two years of life
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