E-LIB Suche - Ergebnisse für: Jun Kido

1

Gene therapy for lysosomal storage diseases: Current clinic..:

Jun Kido ; Keishin Sugawara ; Kimitoshi Nakamura
https://www.frontiersin.org/articles/10.3389/fgene.2023.1064924/full. , 2023

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

2

X-linked intellectual disability related to a novel variant..:

Jun Kido ; Kimiyasu Egami ; Yohei Misumi...
https://doi.org/10.1038/s41439-023-00248-7. , 2023

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

3

Frequency of iduronate-2-sulfatase gene variants detected i..:

Yusuke Hattori ; Takaaki Sawada ; Jun Kido...
http://www.sciencedirect.com/science/article/pii/S2214426923000496. , 2023

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

4

Heterozygous c.175C>T variant in PURA gene causes severe de..:

Yusuke Noda ; Jun Kido ; Yohei Misumi...
https://doi.org/10.1002/ccr3.7779. , 2023

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

5

Gene therapy for spinal muscular atrophy is considerably ef..:

Takaaki Sawada ; Jun Kido ; Yukako Yae...
http://www.sciencedirect.com/science/article/pii/S2214426923000198. , 2023

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

6

DataSheet1_Pathogenic variants of ornithine transcarbamylas..:

Jun Kido ; Keishin Sugawara ; Takaaki Sawada..
doi:10.3389/fgene.2022.952467.s001. , 2022

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

7

Pathogenic variants of ornithine transcarbamylase deficienc..:

Jun Kido ; Keishin Sugawara ; Takaaki Sawada..
https://www.frontiersin.org/articles/10.3389/fgene.2022.952467/full. , 2022

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

8

Image2_Pathogenic variants of ornithine transcarbamylase de..:

Jun Kido ; Keishin Sugawara ; Takaaki Sawada..
doi:10.3389/fgene.2022.952467.s005. , 2022

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

9

DataSheet2_Pathogenic variants of ornithine transcarbamylas..:

Jun Kido ; Keishin Sugawara ; Takaaki Sawada..
doi:10.3389/fgene.2022.952467.s002. , 2022

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

10

A case report of two siblings with hypertyrosinemia type 1 ..:

Kazuo Kawabata ; Jun Kido ; Takanobu Yoshida..
http://www.sciencedirect.com/science/article/pii/S2214426922000520. , 2022

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

11

Newborn screening for spinal muscular atrophy in Japan: One..:

Takaaki Sawada ; Jun Kido ; Keishin Sugawara...
http://www.sciencedirect.com/science/article/pii/S2214426922000684. , 2022

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

12

DataSheet3_Pathogenic variants of ornithine transcarbamylas..:

Jun Kido ; Keishin Sugawara ; Takaaki Sawada..
doi:10.3389/fgene.2022.952467.s003. , 2022

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

13

Newborn screening for Gaucher disease in Japan:

Takaaki Sawada ; Jun Kido ; Keishin Sugawara...
http://www.sciencedirect.com/science/article/pii/S2214426922000106. , 2022

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

14

Image1_Pathogenic variants of ornithine transcarbamylase de..:

Jun Kido ; Keishin Sugawara ; Takaaki Sawada..
doi:10.3389/fgene.2022.952467.s004. , 2022

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

15

Current status of newborn screening for Pompe disease in Ja..:

Takaaki Sawada ; Jun Kido ; Keishin Sugawara...
https://doi.org/10.1186/s13023-021-02146-z. , 2021

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