Suchergebnisse - "Tajima, Go"

PubPharm (92)

1

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan

enthalten in: International journal of neonatal screening | 2024

von Tajima, G. | Aisaki, J. | Hara, K. | +7

2

A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T

enthalten in: The Journal of clinical investigation | 2023

von Ito, K. | Tajima, G. | Kamisato, C. | +22

3

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity

enthalten in: International journal of neonatal screening | 2023

von Tajima, G. | Hara, K. | Tsumura, M. | +6

4

A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy

enthalten in: Rinsho shinkeigaku = Clinical neurology | 2023

von Shiraishi, W. | Tateishi, T. | Hayashida, S. | +3

5

Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process

enthalten in: International journal of neonatal screening | 2023

von Konomura, K. | Hoshino, E. | Sakai, K. | +2

6

Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis : A case report

enthalten in: JIMD reports | 2023

von Yokoi, K. | Nakajima, Y. | Takahashi, Y. | +8

7

Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test

enthalten in: Pediatric research | 2022

von Sugihara, K. | Yuasa, M. | Isozaki, Y. | +11

8

The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening

enthalten in: Molecular genetics and metabolism | 2022

von Osawa, Y. | Kobayashi, H. | Tajima, G. | +14

9

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

enthalten in: Human genome variation | 2022

von Nohara, F. | Tajima, G. | Sasai, H. | +1

10

Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan

enthalten in: International journal of neonatal screening | 2021

von Shigematsu, Y. | Yuasa, M. | Ishige, N. | +2

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