Suchergebnisse - "Fushimi, Takuya"

PubPharm (44)

11

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A

enthalten in: Mitochondrion | 2022

von Shimura, M. | Onuki, T. | Sugiyama, Y. | +14

12

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia

enthalten in: Orphanet journal of rare diseases | 2022

von Sugiyama, Y. | Watanabe, T. | Tajika, M. | +9

13

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia

enthalten in: Orphanet journal of rare diseases | 2022

von Sugiyama, Y. | Watanabe, T. | Tajika, M. | +9

14

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia

enthalten in: Orphanet journal of rare diseases | 2022

von Sugiyama, Y. | Watanabe, T. | Tajika, M. | +9

15

Macroscopic Characteristics of the Native Liver in Children With MPV17‐Related Mitochondrial DNA Depletion Syndrome : An Indication for Performing Liver Transplantation?

enthalten in: Liver Transplantation | 2022

von Kasahara, M. | Sakamoto, S. | Fukuda, A. | +15

16

Valine metabolites analysis in ECHS1 deficiency

enthalten in: Molecular genetics and metabolism reports | 2021

von Kuwajima, M. | Kojima, K. | Osaka, H. | +20

17

Author Correction : Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

enthalten in: Scientific reports | 2021

von Akiyama, N. | Shimura, M. | Yamazaki, T. | +16

ErratumFor: Sci Rep. 2021 Feb 11;11(1):3531. - PMID 33574353

18

Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2

enthalten in: Human mutation | 2021

von Kishita, Y. | Shimura, M. | Kohda, M. | +8

19

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients

enthalten in: International journal of cardiology | 2021

von Imai-Okazaki, A. | Matsunaga, A. | Yatsuka, Y. | +23

20

A Japanese single-center experience of the efficacy and safety of enzyme replacement therapy in childhood-onset hypophosphatasia

enthalten in: ResearchSquare.com | 2021

von Sugiyama, Y. | Watanabe, T. | Tajika, M. | +9