E-LIB Suche - Ergebnisse für: Fushimi, Takuya

1

Partial Efficacy of Vigabatrin in an Infant With West Syndr..:

Motobayashi, Mitsuo ; Munakata, Shun ; Kitazawa, Noritaka...
Pediatric Neurology. 138 (2023) - p. 98-100 , 2023

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

2

Novel ITPA variants identified by whole genome sequencing a..:

Omichi, Nanako ; Kishita, Yoshihito ; Nakama, Mina...
Journal of Human Genetics. 68 (2023) 9 - p. 649-652 , 2023

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

3

Severe spinal cord hypoplasia due to a novel ATAD3A compoun..:

Ebihara, Tomohiro ; Nagatomo, Taro ; Sugiyama, Yohei...
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100912 , 2022

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

4

Development of Leigh syndrome with a high probability of ca..:

Shimura, Masaru ; Onuki, Takanori ; Sugiyama, Yohei...
Mitochondrion. 63 (2022) - p. 1-8 , 2022

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

5

A Japanese single-center experience of the efficacy and saf..:

Sugiyama, Yohei ; Watanabe, Taijiro ; Tajika, Makiko...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

6

Prenatal diagnosis of severe mitochondrial diseases caused ..:

Akiyama, Nana ; Shimura, Masaru ; Yamazaki, Taro...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

7

Neonatal-onset mitochondrial disease: clinical features, mo..:

Ebihara, Tomohiro ; Nagatomo, Taro ; Sugiyama, Yohei...
Archives of Disease in Childhood - Fetal and Neonatal Edition. 107 (2021) 3 - p. 329-334 , 2021

Link: https://doi.org/10.1136/..

8

Macroscopic Characteristics of the Native Liver in Children..:

Kasahara, Mureo ; Sakamoto, Seisuke ; Fukuda, Akinari...
Liver Transplantation. 28 (2021) 3 - p. 497-500 , 2021

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

9

A high mutation load of m.14597A>G in MT-ND6 causes Leigh s..:

Kishita, Yoshihito ; Ishikawa, Kaori ; Nakada, Kazuto...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

10

Genome sequencing and RNA‐seq analyses of mitochondrial com..:

Kishita, Yoshihito ; Shimura, Masaru ; Kohda, Masakazu...
Human Mutation. 42 (2021) 11 - p. 1422-1428 , 2021

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

11

Valine metabolites analysis in ECHS1 deficiency:

Kuwajima, Mari ; Kojima, Karin ; Osaka, Hitoshi...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100809 , 2021

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

12

Author Correction: Prenatal diagnosis of severe mitochondri..:

Akiyama, Nana ; Shimura, Masaru ; Yamazaki, Taro...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

13

Long-term prognosis and genetic background of cardiomyopath..:

Imai-Okazaki, Atsuko ; Matsunaga, Ayako ; Yatsuka, Yukiko...
International Journal of Cardiology. 341 (2021) - p. 48-55 , 2021

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

14

Two cases of a non-progressive hepatic form of glycogen sto..:

Ichimoto, Keiko ; Fujisawa, Tomoo ; Shimura, Masaru...
Molecular Genetics and Metabolism Reports. 24 (2020) - p. 100601 , 2020

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

15

Mortality of Japanese patients with Leigh syndrome: Effects..:

Ogawa, Erika ; Fushimi, Takuya ; Ogawa‐Tominaga, Minako...
Journal of Inherited Metabolic Disease. 43 (2020) 4 - p. 819-826 , 2020

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