• 968 Citations
  • 16 h-Index
1985 …2019
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Tandem Mass Spectrometry Medicine & Life Sciences
Carnitine Medicine & Life Sciences
Mutation Medicine & Life Sciences
Mass spectrometry Chemical Compounds
Serum Medicine & Life Sciences
dihydropyrimidinase Chemical Compounds
Liver Transplantation Medicine & Life Sciences
Ornithine Carbamoyltransferase Deficiency Disease Medicine & Life Sciences

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Research Output 1985 2019

Disruption of the responsible gene in a phosphoglucomutase 1 deficiency patient by homozygous chromosomal inversion

Yokoi, K., Nakajima, Y., Oe, T., Inagaki, H., Wada, Y., Fukuda, T., Sugie, H., Yuasa, I., Ito, T. & Kurahashi, H., 01-01-2019, JIMD Reports. Springer, p. 85-90 6 p. (JIMD Reports; vol. 43).

Research output: Chapter in Book/Report/Conference proceedingChapter

Phosphoglucomutase
Genes
Mutation
Congenital Disorders of Glycosylation
Glycogen Storage Disease
4 Citations (Scopus)

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Wada, Y., Kikuchi, A., Arai-Ichinoi, N., Sakamoto, O., Takezawa, Y., Iwasawa, S., Niihori, T., Nyuzuki, H., Nakajima, Y., Ogawa, E., Ishige, M., Hirai, H., Sasai, H., Fujiki, R., Shirota, M., Funayama, R., Yamamoto, M., Ito, T., Ohara, O., Nakayama, K. & 4 othersAoki, Y., Koshiba, S., Fukao, T. & Kure, S., 01-01-2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Galactosemias
Galactose
Exome
Protein Stability
Enzyme Assays
Ornithine Carbamoyltransferase Deficiency Disease
Gene Duplication
Exons
Mutation
Genes

Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia

Gotoh, K., Nakajima, Y., Tajima, G., Watanabe, Y., Hotta, Y., Kataoka, T., Kawade, Y., Sugiyama, N., Ito, T., Kimura, K. & Maeda, Y., 01-03-2017, In : Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 1046, p. 195-199 5 p.

Research output: Contribution to journalArticle

Methylmalonyl-CoA Decarboxylase
Propionic Acidemia
High performance liquid chromatography
Tandem Mass Spectrometry
Mass spectrometry
1 Citation (Scopus)

Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening

Nakano, M., Uemura, O., Honda, M., Ito, T., Nakajima, Y. & Saitoh, S., 01-08-2017, In : Pediatric Research. 82, 2, p. 237-243 7 p.

Research output: Contribution to journalArticle

Mass Screening
Tandem Mass Spectrometry
Creatinine
Newborn Infant
Pediatrics