MIURA Kiyokuni | Aichi Prefectural Colony Hospital

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概要

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著作論文

Pilot study on neonatal mass screening for inborn errors of metabolism by gas chromatography-mass spectrometry : eighteen months experience in Shimane Area
Urinary organic acids in peroxisomal disorders : a simple screening method
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
Epilepsy in Peroxisomal Diseases
Molecular analysis of AVPR2 gene in a Japanese patient With X-linked nephrogenic diabetes insipidus, congenital heart disease and mental retardation
Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper : determination of α-ketoacids
Gas chromatography-mass spectrometry with tert.-butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
Gas chromatography-mass spectrometry with tert. -butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
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
Rapid, simplified and sensitive method for screening fructose-1, 6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode
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
Practical Assay Method of Cytosolic Acetoacetyl-CoA Thiolase by Rapid Release of Cytosolic Enzymes from Cultured Lymphocytes Using Digitonin
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
Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia

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