Suchergebnisse - "Fushimi, Takuya"

PubPharm (13)

1

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

enthalten in: Journal of medical genetics | 2023

von Kishita, Y. | Sugiura, A. | Onuki, T. | +15

2

Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency : A Case Report

enthalten in: Pediatric neurology | 2023

von Motobayashi, M. | Munakata, S. | Kitazawa, N. | +3

3

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 : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society | 2022

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

4

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

5

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

6

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

enthalten in: Scientific reports | 2021

von Kishita, Y. | Ishikawa, K. | Nakada, K. | +7

7

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

ErratumIn: Sci Rep. 2021 Nov 16;11(1):22682. - PMID 34785734

8

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan : evaluation of outcomes after liver transplantation

enthalten in: Orphanet journal of rare diseases | 2020

von Shimura, M. | Kuranobu, N. | Ogawa-Tominaga, M. | +21

9

Mortality of Japanese patients with Leigh syndrome : Effects of age at onset and genetic diagnosis

enthalten in: Journal of inherited metabolic disease | 2020

von Ogawa, E. | Fushimi, T. | Ogawa-Tominaga, M. | +15

10

NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness

enthalten in: Brain : a journal of neurology | 2020

von Borna, N. | Kishita, Y. | Abe, J. | +8

CommentOn: Brain. 2019 Jan 1;142(1):50-58. - PMID 30576410