FEBRIANI ANDI | Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences
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概要
Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences | 論文
- 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
- Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia
- Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening
- Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications
- Treatment of infant acute lymphoblastic leukemia in Japan