E-LIB Suche - Ergebnisse für: Fukuda, Tokiko

1

Case Report: Novel compound heterozygous TPRKB variants cau..:

Hiraide, Takuya ; Hayashi, Taiju ; Ito, Yusuke...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Familial hyperCKemia with exercise-induced myalgia associat..:

Hiraide, Takuya ; Yoshioka, Wakako ; Ito, Yusuke...
Brain and Development Case Reports. 2 (2024) 3 - p. 100025 , 2024

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

3

RNA sequencing and target long-read sequencing reveal an in..:

Kawakami, Ryota ; Hiraide, Takuya ; Watanabe, Kazuki...
Journal of Human Genetics. 69 (2023) 2 - p. 91-99 , 2023

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

4

Blood glucose trends in glycogen storage disease type Ia: A..:

Fukuda, Tokiko ; Ito, Tetsuya ; Hamazaki, Takashi...
Journal of Inherited Metabolic Disease. 46 (2023) 4 - p. 618-633 , 2023

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

5

A 78-year-old Japanese male with late-onset PHKA1-associate..:

Mori-Yoshimura, Madoka ; Aizawa, Kazutaka ; Oya, Yasushi...
Neuromuscular Disorders. 32 (2022) 9 - p. 769-773 , 2022

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

6

Maximal Multistage Shuttle Run Test-induced Myalgia in a Pa..:

Munekane, Asami ; Ohsawa, Yutaka ; Fukuda, Tokiko...
Internal Medicine. 61 (2022) 8 - p. 1241-1245 , 2022

Link: https://doi.org/10.2169/..

7

A Mild Clinical Phenotype with Myopathic and Hemolytic Form..:

Baba, Kousuke ; Fukuda, Tokiko ; Furuta, Mitsuru...
Internal Medicine. 61 (2022) 23 - p. 3589-3594 , 2022

Link: https://doi.org/10.2169/..

8

Retrotransposition disrupting EBP in a girl and her mother ..:

Hiraide, Takuya ; Masunaga, Yohei ; Honda, Akira...
Journal of Human Genetics. 67 (2022) 5 - p. 303-306 , 2022

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

9

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/..

10

A novel PHKA2 variant in a Japanese boy with glycogen stora..:

Mori, Toshihiko ; Ishikawa, Aki ; Shigetomi, Hiroko..
Pediatrics International. 64 (2021) 1 - p. , 2021

Link: https://doi.org/10.1111/..

11

OTUD5 Variants Associated With X-Linked Intellectual Disabi..:

Saida, Ken ; Fukuda, Tokiko ; Scott, Daryl A....
Frontiers in Cell and Developmental Biology. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

12

Genetic and phenotypic analysis of 101 patients with develo..:

Hiraide, Takuya ; Yamoto, Kaori ; Masunaga, Yohei...
Clinical Genetics. 100 (2021) 1 - p. 40-50 , 2021

Link: https://doi.org/10.1111/..

13

Global developmental delay, systemic dysmorphism and epilep..:

Hiraide, Takuya ; Tanaka, Taihei ; Masunaga, Yohei...
Journal of Human Genetics. 66 (2021) 12 - p. 1185-1187 , 2021

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

14

Guidelines for the diagnosis and treatment of acute encepha..:

Mizuguchi, Masashi ; Ichiyama, Takashi ; Imataka, George...
Brain and Development. 43 (2021) 1 - p. 2-31 , 2021

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

15

The effect of the guidelines for management of febrile seiz..:

Tanaka, Masaharu ; Natsume, Jun ; Hamano, Shin-ichiro...
Brain and Development. 42 (2020) 1 - p. 28-34 , 2020

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