スポンサーリンク
Department of Pediatrics, Shimane University School 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
- 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
- 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
- Brain stem glioblastoma with multiple large cyst formation and leptomeningeal dissemination in a 4-year-old girl
- Carnitine Palmitoyltransferase 2 Deficiency : The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation
- Quantitative evaluation of sphingolipids using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard Practical application to cardiac valves from a patient