Publications by authors named "Toju Tanaka"

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Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.
Takanori Onuki, Makiko Tajika, Yohei Sugiyama, Masaru Shimura, Keiko Ichimoto, Toju Tanaka

Orphanet J Rare Dis· July 2025

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Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.
Yoshihito Kishita, Ayumu Sugiura, Nanako Omichi, Masaru Shimura, Yukiko Yatsuka, Toju Tanaka

Liver Int· January 2025

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Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
Jun Kido, Johannes Häberle, Toju Tanaka, Masayoshi Nagao, Yoichi Wada

J Inherit Metab Dis· November 2024

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Ulcerative Colitis Preceding Asymptomatic Wilson's Disease: A Case Report and Literature Review.
Jun Kunizaki, Yuko Yoto, Yoshinobu Nagaoka, Akira Ishii, Tomoe Kazama, Toju Tanaka

Gastro Hep Adv· September 2024

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Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Yasuko Mikami-Saito, Yoichi Wada, Natsuko Arai-Ichinoi, Yoko Nakajima, Sayaka Suzuki-Ajihara, Toju Tanaka

Genet Med· August 2024

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Molecular evolutionary analysis of novel NSP4 mono-reassortant G1P[8]-E2 rotavirus strains that caused a discontinuous epidemic in Japan in 2015 and 2018.
Yoshiki Fujii, Takeshi Tsugawa, Yuya Fukuda, Shuhei Adachi, Saho Honjo, Toju Tanaka

Front Microbiol· July 2024

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Resurgence of human metapneumovirus infection and influenza after three seasons of inactivity in the post-COVID-19 era in Hokkaido, Japan, 2022-2023.
Yuya Fukuda, Atsuo Togashi, Satoshi Hirakawa, Masaki Yamamoto, Shinobu Fukumura, Toju Tanaka

J Med Virol· December 2023

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Changing Patterns of Infectious Diseases Among Hospitalized Children in Hokkaido, Japan, in the Post-COVID-19 Era, July 2019 to June 2022.
Yuya Fukuda, Atsuo Togashi, Satoshi Hirakawa, Masaki Yamamoto, Shinobu Fukumura, Toju Tanaka

Pediatr Infect Dis J· September 2023

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Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Jun Kido, Johannes Häberle, Keishin Sugawara, Toju Tanaka, Masayoshi Nagao

J Inherit Metab Dis· May 2022

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Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Nana Sakakibara, Takeshi Ijuin, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Ryojiro Tanaka, Toju Tanaka

Nephrol Dial Transplant· January 2022

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Surveillance in hospitalized children with infectious diseases in Japan: Pre- and post-coronavirus disease 2019.
Yuya Fukuda, Takeshi Tsugawa, Yoshinobu Nagaoka, Akira Ishii, Tomohiro Nawa, Toju Tanaka, Rina Tanaka

J Infect Chemother· November 2021

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Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry.
Hiroko Shigetomi, Toju Tanaka, Masayoshi Nagao, Hiroyuki Tsutsumi

Int J Neonatal Screen· March 2018

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Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Yuka Aoyama, Toshiyuki Yamamoto, Naomi Sakaguchi, Mika Ishige, Toju Tanaka

Int J Mol Med· June 2015

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A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping.
Tokimasa Hida, Masae Okura, Toju Tanaka, Toshiharu Yamashita

J Dermatol· November 2014

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Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.
Masayoshi Nagao, Toju Tanaka, Mahoko Furujo

Mol Genet Metab· December 2013

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Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation.
Masayoshi Nagao, Toju Tanaka, Mayuko Morii, Shuji Wakai, Reiko Horikawa

Mol Genet Metab· January 2013

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Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.
Akemi Tanaka, Torayuki Okuyama, Yasuyuki Suzuki, Norio Sakai, Hiromitsu Takakura, Toju Tanaka

Mol Genet Metab· November 2012

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Newborn screening for Pompe disease in Japan.
Eri Oda, Toju Tanaka, Ohsuke Migita, Motomichi Kosuga, Masaru Fukushi

Mol Genet Metab· December 2011

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HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Kenji Kurosawa, Hirofumi Ohashi, Toju Tanaka

J Hum Genet· October 2011

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A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
Toshiyuki Fukao, Reiko Horikawa, Yasuhiro Naiki, Toju Tanaka, Masaki Takayanagi

Mol Genet Metab· August 2010

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Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).
Torayuki Okuyama, Akemi Tanaka, Yasuyuki Suzuki, Hiroyuki Ida, Toju Tanaka

Mol Genet Metab· January 2010

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Monozygotic twins of Smith-Magenis syndrome.
Rika Kosaki, Torayuki Okuyama, Toju Tanaka, Ohsuke Migita, Kenjiro Kosaki

Am J Med Genet A· April 2007

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[Abnormalities in the development of adrenal gland].
Toju Tanaka, Akihiro Umezawa, Hiroyuki Tsutsumi

Nihon Rinsho· May 2006

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Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.
Toju Tanaka, Masayoshi Nagao, Hiroyuki Tsutsumi

Tohoku J Exp Med· October 2002

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A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Toju Tanaka, Masayoshi Nagao, Toshihiko Mori, Hiroyuki Tsutsumi

Tohoku J Exp Med· October 2002

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