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1 . Academic Journal
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
저자
by
Mikami-Saito, Yasuko
;
Wada, Yoichi
;
Arai-Ichinoi, Natsuko
;
Nakajima, Yoko
;
Suzuki-Ajihara, Sayaka
, et al.
소스
In
Genetics in Medicine
May 2024
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7 . Academic Journal
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al
저자
by
Takano, Chika
;
Ogawa, Erika
;
Arai-Ichinoi, Natsuko
;
Ishige, Mika
.
소스
In
Molecular Genetics and Metabolism Reports
March 2024 38
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6 . Academic Journal
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing
저자
by
Togawa, Takao
;
Sugiura, Tokio
;
Ito, Koichi
;
Endo, Takeshi
;
Aoyama, Kohei
, et al.
소스
In
The Journal of Pediatrics
April 2016 171:171-177
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7 .
Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency
저자
by
Inui, Takehiko
;
Wada, Yoichi
;
Shibuya, Moriei
;
Arai-Ichinoi, Natsuko
;
Okubo, Yukimune
, et al.
소스
In
Brain and Development
March 2022 44(3):244-248
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7 . Academic Journal
β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.
저자
by
Wada, Yoichi
;
Arai‐Ichinoi, Natsuko
;
Kikuchi, Atsuo
;
Kure, Shigeo
.
소스
Journal of Inherited Metabolic Disease; Mar2022, Vol. 45 Issue 2, p334-339, 6p
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6 . Academic Journal
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.
저자
by
Arai‐Ichinoi, Natsuko
;
Kikuchi, Atsuo
;
Wada, Yoichi
;
Sakamoto, Osamu
;
Kure, Shigeo
.
소스
Journal of Inherited Metabolic Disease; Jul2021, Vol. 44 Issue 4, p838-846, 9p
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7 .
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation
저자
by
Okubo, Yukimune
;
Endo, Wakaba
;
Inui, Takehiko
;
Suzuki-Muromoto, Sato
;
Miyabayashi, Takuya
, et al.
소스
In
Brain and Development
April 2018 40(4):334-338
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7 .
Reversible brain atrophy in glutaric aciduria type 1
저자
by
Numata-Uematsu, Yurika
;
Sakamoto, Osamu
;
Kakisaka, Yosuke
;
Okubo, Yukimune
;
Oikawa, Yoshitsugu
, et al.
소스
In
Brain and Development
June 2017 39(6):532-535
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7 .
Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation
저자
by
Hino-Fukuyo, Naomi
;
Kikuchi, Atsuo
;
Iwasaki, Masaki
;
Sato, Yuko
;
Kubota, Yuki
, et al.
소스
In
Brain and Development
April 2017 39(4):337-340
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7 .
Mucolipidosis IV: A milder form with novel mutations and serial MRI findings
저자
by
Shiihara, Takashi
;
Watanabe, Mio
;
Moriyama, Kengo
;
Maruyama, Yasuhiro
;
Kikuchi, Atsuo
, et al.
소스
In
Brain and Development
September 2016 38(8):763-767
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