E-LIB Suche - Ergebnisse für: Tajima, Go

1

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of..:

Tajima, Go ; Aisaki, Junko ; Hara, Keiichi...
International Journal of Neonatal Screening. 10 (2024) 1 - p. 15 , 2024

Link: https://doi.org/10.3390/..

2

A splice-switching oligonucleotide treatment ameliorates gl..:

Ito, Kentaro ; Tajima, Go ; Kamisato, Chikako...
Journal of Clinical Investigation. 133 (2023) 23 - p. , 2023

Link: https://doi.org/10.1172/..

3

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carn..:

Tajima, Go ; Hara, Keiichi ; Tsumura, Miyuki...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 62 , 2023

Link: https://doi.org/10.3390/..

4

Development of a Model for Quantitative Assessment of Newbo..:

Konomura, Keiko ; Hoshino, Eri ; Sakai, Kotomi..
International Journal of Neonatal Screening. 9 (2023) 3 - p. 39 , 2023

Link: https://doi.org/10.3390/..

5

MCAD deficiency caused by compound heterozygous pathogenic ..:

Nohara, Fumikatsu ; Tajima, Go ; Sasai, Hideo.
Human Genome Variation. 9 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

6

Severity estimation of very-long-chain acyl-CoA dehydrogena..:

Sugihara, Keiichi ; Yuasa, Miori ; Isozaki, Yuko...
Pediatric Research. 92 (2022) 5 - p. 1391-1399 , 2022

Link: https://doi.org/10.1038/..

7

The frequencies of very long-chain acyl-CoA dehydrogenase d..:

Osawa, Yoshimitsu ; Kobayashi, Hironori ; Tajima, Go...
Molecular Genetics and Metabolism. 136 (2022) 1 - p. 74-79 , 2022

Link: https://doi.org/10.1016/..

8

Transport and Golgi organization 2 deficiency with a promin..:

Yokoi, Katsuyuki ; Nakajima, Yoko ; Takahashi, Yoshihisa...
JIMD Reports. 64 (2022) 1 - p. 3-9 , 2022

Link: https://doi.org/10.1002/..

9

Development of Second-Tier Liquid Chromatography-Tandem Mas..:

Shigematsu, Yosuke ; Yuasa, Miori ; Ishige, Nobuyuki..
International Journal of Neonatal Screening. 7 (2021) 3 - p. 44 , 2021

Link: https://doi.org/10.3390/..

10

Pilot Study on Neonatal Screening for Methylmalonic Acidemi..:

Kagawa, Reiko ; Tajima, Go ; Maeda, Takako...
International Journal of Neonatal Screening. 7 (2021) 3 - p. 39 , 2021

Link: https://doi.org/10.3390/..

11

Current Perspectives on Neonatal Screening for Propionic Ac..:

Tajima, Go ; Kagawa, Reiko ; Sakura, Fumiaki...
International Journal of Neonatal Screening. 7 (2021) 3 - p. 35 , 2021

Link: https://doi.org/10.3390/..

12

A Case Report of a Japanese Boy with Morquio A Syndrome: Ef..:

Nakamura-Utsunomiya, Akari ; Nakamae, Toshio ; Kagawa, Reiko...
International Journal of Molecular Sciences. 21 (2020) 3 - p. 989 , 2020

Link: https://doi.org/10.3390/..

13

A classic variant of Fabry disease in a family with the M29..:

Hirashio, Shuma ; Kagawa, Reiko ; Tajima, Go.
CEN Case Reports. 10 (2020) 1 - p. 106-110 , 2020

Link: https://doi.org/10.1007/..

14

Newborn screening for Fabry disease in the western region o..:

Sawada, Takaaki ; Kido, Jun ; Yoshida, Shinichiro...
Molecular Genetics and Metabolism Reports. 22 (2020) - p. 100562 , 2020

Link: https://doi.org/10.1016/..

15

Evaluation of Metabolic Defects in Fatty Acid Oxidation Usi..:

Yuasa, Miori ; Hata, Ikue ; Sugihara, Keiichi...
Disease Markers. 2019 (2019) - p. 1-11 , 2019

Link: https://doi.org/10.1155/..