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Numakura, Chikahiko
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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