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Numakura, Chikahiko
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Online (70)
Mediatypes
Articles (Online) (52)
OpenAccess-fulltext (18)
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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
Clinical and molecular analyses of isolated central congeni..:
Shibata, Nao
;
Numakura, Chikahiko
;
Hamajima, Takashi
...
Endocrine Journal. 71 (2024) 5 - p. 471-480 , 2024
Link:
https://doi.org/10.1507/..
?
3
Identification of causative gene variants for patients with..:
Takase, Kaoru
;
Susa, Shinji
;
Sato, Hidenori
...
Diabetology International. 15 (2023) 2 - p. 203-211 , 2023
Link:
https://doi.org/10.1007/..
?
4
Incidence and Risk Factors for Adrenal Crisis in Pediatric-..:
Hosokawa, Mayumi
;
Ichihashi, Yosuke
;
Sato, Yasunori
...
The Journal of Clinical Endocrinology & Metabolism. 109 (2023) 8 - p. e1602-e1607 , 2023
Link:
https://doi.org/10.1210/..
?
5
Guidelines for Newborn Screening of Congenital Hypothyroidi..:
Nagasaki, Keisuke
;
Minamitani, Kanshi
;
Nakamura, Akie
...
Clinical Pediatric Endocrinology. 32 (2023) 1 - p. 26-51 , 2023
Link:
https://doi.org/10.1297/..
?
6
Improved sensitivity and specificity for citrin deficiency ..:
Kido, Jun
;
Häberle, Johannes
;
Tanaka, Toju
...
Journal of Inherited Metabolic Disease. , 2023
Link:
https://doi.org/10.1002/..
?
7
Association between maternally inherited deafness, epilepsy..:
Suzuki-Ajihara, Sayaka
;
Saito-Tsuruoka, Megumi
;
Harashima, Hiroko
...
Molecular Genetics and Metabolism Reports. 35 (2023) - p. 100966 , 2023
Link:
https://doi.org/10.1016/..
?
8
The Possible Outcomes of Poor Adherence to Conventional Tre..:
Zukeran, Hiroaki
;
Ikegawa, Kento
;
Numakura, Chikahiko
.
Endocrines. 4 (2023) 1 - p. 110-116 , 2023
Link:
https://doi.org/10.3390/..
?
9
Heterozygous calcyclin-binding protein/Siah1-interacting pr..:
Kanno, Miyako
;
Suzuki, Mitsuyoshi
;
Tanikawa, Ken
...
Journal of Human Genetics. 67 (2022) 7 - p. 393-397 , 2022
Link:
https://doi.org/10.1038/..
?
10
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/..
?
11
Retrospective study of the renal function using estimated g..:
Izumita, Yukie
;
Nishigaki, Satsuki
;
Satoh, Mari
...
Congenital Anomalies. 60 (2020) 6 - p. 175-179 , 2020
Link:
https://doi.org/10.1111/..
?
12
Clinical characteristics of cytochrome P450 oxidoreductase ..:
Yatsuga, Shuichi
;
Amano, Naoko
;
Nakamura-Utsunomiya, Akari
...
Endocrine Journal. 67 (2020) 8 - p. 853-857 , 2020
Link:
https://doi.org/10.1507/..
?
13
Foetal virilisation caused by overproduction of non-aromati..:
Nagasaki, Keisuke
;
Takase, Kaoru
;
Numakura, Chikahiko
...
Human Reproduction. 35 (2020) 11 - p. 2609-2612 , 2020
Link:
https://doi.org/10.1093/..
?
14
Diabetes mellitus exacerbates citrin deficiency via glucose..:
Watanabe, Yoriko
;
Numakura, Chikahiko
;
Tahara, Toshiyuki
...
Diabetes Research and Clinical Practice. 164 (2020) - p. 108159 , 2020
Link:
https://doi.org/10.1016/..
?
15
Growth impairment in individuals with citrin deficiency:
Numakura, Chikahiko
;
Tamiya, Gen
;
Ueki, Masao
...
Journal of Inherited Metabolic Disease. 42 (2019) 3 - p. 501-508 , 2019
Link:
https://doi.org/10.1002/..
1-15