Publications by authors named "Tokiko Fukuda"

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Biopsy-Proven Reversal of F4 Cirrhosis in Classic Hepatic Glycogen Storage Disease Type IV: A 42-Year Follow-Up Without Transplantation.
Masaaki Mino, Nami Mori, Yumi Shimomura, Taiji Yamazoe, Shintaro Takaki, Tokiko Fukuda

Hepatol Res· December 2025

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An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO.
Takuya Hiraide, Taiju Hayashi, Kaori Yamoto, Yohei Masunaga, Miki Asahina, Tokiko Fukuda

Brain Dev· October 2025

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Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant.
Takato Akiba, Kaori Yamoto, Takuya Hiraide, Tsutomu Ogata, Tokiko Fukuda

Seizure· September 2025

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Japanese guidelines for treatment of pediatric status epilepticus - 2023.
Kenjiro Kikuchi, Ichiro Kuki, Masahiro Nishiyama, Yuki Ueda, Ryuki Matsuura, Tokiko Fukuda

Brain Dev· February 2025

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Vitamin A Deficiency in Children With Autism Spectrum Disorder.
Yuki Ozawa, Akiko Hikoya, Nobutaka Tachibana, Miwa Komori, Tokiko Fukuda

Cureus· January 2025

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Case Report: Novel compound heterozygous variants cause Galloway-Mowat syndrome.
Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Tokiko Fukuda

Front Pediatr· April 2024

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RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Tokiko Fukuda

J Hum Genet· February 2024

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Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Tokiko Fukuda, Tetsuya Ito, Takashi Hamazaki, Ayano Inui, Mika Ishige

J Inherit Metab Dis· July 2023

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A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
Kousuke Baba, Tokiko Fukuda, Mitsuru Furuta, Satoru Tada, Atsuko Imai

Intern Med· December 2022

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Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via C-fatty acid loading test.
Keiichi Sugihara, Miori Yuasa, Yuko Isozaki, Ikue Hata, Yusei Ohshima, Tokiko Fukuda

Pediatr Res· November 2022

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A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.
Madoka Mori-Yoshimura, Kazutaka Aizawa, Yasushi Oya, Yoshihiko Saito, Tokiko Fukuda

Neuromuscul Disord· September 2022

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Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
Takuya Hiraide, Yohei Masunaga, Akira Honda, Fumiko Kato, Tokiko Fukuda

J Hum Genet· May 2022

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Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.
Asami Munekane, Yutaka Ohsawa, Tokiko Fukuda, Hirotake Nishimura, Shin-Ichiro Nishimatsu

Intern Med· April 2022

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Muscle biochemical and pathological diagnosis in Pompe disease.
Yoshihiko Saito, Kimitoshi Nakamura, Tokiko Fukuda, Hideo Sugie, Shinichiro Hayashi

J Neurol Neurosurg Psychiatry· April 2022

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A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa.
Toshihiko Mori, Aki Ishikawa, Hiroko Shigetomi, Tokiko Fukuda, Hideo Sugie

Pediatr Int· January 2022

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Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
Takuya Hiraide, Taihei Tanaka, Yohei Masunaga, Yumiko Ohkubo, Mitsuko Nakashima, Tokiko Fukuda

J Hum Genet· December 2021

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Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Takuya Hiraide, Kaori Yamoto, Yohei Masunaga, Miki Asahina, Yusaku Endoh, Tokiko Fukuda

Clin Genet· July 2021

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Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.
Ken Saida, Tokiko Fukuda, Daryl A Scott, Toru Sengoku, Kazuhiro Ogata

Front Cell Dev Biol· March 2021

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Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.
Masashi Mizuguchi, Takashi Ichiyama, George Imataka, Akihisa Okumura, Tomohide Goto, Tokiko Fukuda

Brain Dev· January 2021

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Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
Yasuhiro Fuseya, Takeyo Sakurai, Jun-Ichi Miyahara, Kei Sato, Seiji Kaji, Tokiko Fukuda

Intern Med· November 2020

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Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.
Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Tokiko Fukuda

Mol Genet Metab Rep· September 2020

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Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
Tokiko Fukuda, Takuya Hiraide, Kaori Yamoto, Mitsuko Nakashima, Tomoko Kawai

Eur J Med Genet· April 2020

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The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan.
Masaharu Tanaka, Jun Natsume, Shin-Ichiro Hamano, Kuniaki Iyoda, Hideaki Kanemura, Tokiko Fukuda

Brain Dev· January 2020

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Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId.
Shinji Itamura, Tohru Okanishi, Yoshifumi Arai, Mitsuyo Nishimura, Shimpei Baba, Tokiko Fukuda

Front Neurol· November 2019

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A rare variant (p.G991A) identified in a patient with ketotic hypoglycemia.
Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai

JIMD Rep· July 2019

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