E-LIB Suche - Ergebnisse für: Takaaki Sawada

1

Phenotypic and genetic spectra of galactose mutarotase defi..:

Mikami-Saito, Yasuko ; Wada, Yoichi ; Arai-Ichinoi, Natsuko...
Genetics in Medicine. 26 (2024) 8 - p. 101165 , 2024

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

2

Rapid and long‐lasting efficacy of high‐dose ambroxol thera..:

Higashi, Kanako ; Sonoda, Yuri ; Kaku, Noriyuki...
Molecular Genetics & Genomic Medicine. 12 (2024) 4 - p. , 2024

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

3

Newborn screening for Gaucher disease in Japan:

Nakamura, Kimitoshi ; Sawada, Takaaki ; Kido, Jun
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107236 , 2023

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

4

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

Sawada, Takaaki ; Kido, Jun ; Yae, Yukako...
Molecular Genetics and Metabolism Reports. 35 (2023) - p. 100973 , 2023

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

5

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

Hattori, Yusuke ; Sawada, Takaaki ; Kido, Jun...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101003 , 2023

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

6

Clinical manifestation and long‐term outcome of citrin defi..:

Kido, Jun ; Häberle, Johannes ; Sugawara, Keishin...
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 431-444 , 2022

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

7

The earliest enzyme replacement for infantile‐onset Pompe d..:

Tocan, Vlad ; Mushimoto, Yuichi ; Kojima‐Ishii, Kanako...
Pediatrics International. 64 (2022) 1 - p. , 2022

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

8

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

Sawada, Takaaki ; Kido, Jun ; Sugawara, Keishin...
Molecular Genetics and Metabolism Reports. 32 (2022) - p. 100908 , 2022

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

9

Newborn screening for Gaucher disease in Japan:

Sawada, Takaaki ; Kido, Jun ; Sugawara, Keishin...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100850 , 2022

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

10

Pathogenic variants of ornithine transcarbamylase deficienc..:

Kido, Jun ; Sugawara, Keishin ; Sawada, Takaaki..
Frontiers in Genetics. 13 (2022) - p. , 2022

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

11

High-risk screening for Fabry disease in hemodialysis patie..:

Imasawa, Toshiyuki ; Murayama, Kei ; Sawada, Takaaki...
Clinical and Experimental Nephrology. 27 (2022) 3 - p. 288-294 , 2022

Link: https://doi.org/10.1007/..

12

Variants associated with urea cycle disorders in Japanese p..:

Kido, Jun ; Matsumoto, Shirou ; Sugawara, Keishin..
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2026-2036 , 2021

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

13

High-Risk Screening for Fabry Disease: A Nationwide Study i..:

Sawada, Takaaki ; Kido, Jun ; Sugawara, Keishin.
Diagnostics. 11 (2021) 10 - p. 1779 , 2021

Link: https://doi.org/10.3390/..

14

Characteristics of Neurological Symptoms in Adult Japanese ..:

Sawada, Jun ; Nakagawa, Naoki ; Kano, Kohei...
Internal Medicine. 60 (2021) 12 - p. 1819-1826 , 2021

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

15

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

Sawada, Takaaki ; Kido, Jun ; Sugawara, Keishin...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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