Tanaka T - Search Results

1

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.

Kido J, Häberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K. Kido J, et al. Among authors: tanaka t. J Inherit Metab Dis. 2022 May;45(3):431-444. doi: 10.1002/jimd.12483. Epub 2022 Feb 25. J Inherit Metab Dis. 2022. PMID: 35142380

2

Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.

Tanaka T, Nagao M, Tsutsumi H. Tanaka T, et al. Tohoku J Exp Med. 2002 Oct;198(2):89-97. doi: 10.1620/tjem.198.89. Tohoku J Exp Med. 2002. PMID: 12512993 Free article.

3

A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.

Tanaka T, Nagao M, Mori T, Tsutsumi H. Tanaka T, et al. Tohoku J Exp Med. 2002 Oct;198(2):119-24. doi: 10.1620/tjem.198.119. Tohoku J Exp Med. 2002. PMID: 12512996 Free article.

4

Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation.

Nagao M, Tanaka T, Morii M, Wakai S, Horikawa R, Kasahara M. Nagao M, et al. Among authors: tanaka t. Mol Genet Metab. 2013 Jan;108(1):25-9. doi: 10.1016/j.ymgme.2012.10.022. Epub 2012 Oct 29. Mol Genet Metab. 2013. PMID: 23151386

5

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.

Nagao M, Tanaka T, Furujo M. Nagao M, et al. Among authors: tanaka t. Mol Genet Metab. 2013 Dec;110(4):460-4. doi: 10.1016/j.ymgme.2013.10.013. Epub 2013 Oct 31. Mol Genet Metab. 2013. PMID: 24231718

6

Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry.

Shigetomi H, Tanaka T, Nagao M, Tsutsumi H. Shigetomi H, et al. Among authors: tanaka t. Int J Neonatal Screen. 2018 Jan 16;4(1):5. doi: 10.3390/ijns4010005. eCollection 2018 Mar. Int J Neonatal Screen. 2018. PMID: 33072931 Free PMC article.

7

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Kido J, Häberle J, Tanaka T, Nagao M, Wada Y, Numakura C, Bo R, Nyuzuki H, Dateki S, Maruyama S, Murayama K, Yoshida S, Nakamura K. Kido J, et al. Among authors: tanaka t. J Inherit Metab Dis. 2024 Nov;47(6):1134-1143. doi: 10.1002/jimd.12673. Epub 2023 Sep 12. J Inherit Metab Dis. 2024. PMID: 37681292

8

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S. Mikami-Saito Y, et al. Among authors: tanaka t. Genet Med. 2024 Aug;26(8):101165. doi: 10.1016/j.gim.2024.101165. Epub 2024 May 16. Genet Med. 2024. PMID: 38762772 Free article.

9

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Kishita Y, Sugiura A, Omichi N, Shimura M, Yatsuka Y, Nakamura K, Tanaka T, Kubota M, Murayama K, Ohtake A, Okazaki Y. Kishita Y, et al. Among authors: tanaka t. Liver Int. 2025 Jan;45(1):e16148. doi: 10.1111/liv.16148. Epub 2024 Nov 7. Liver Int. 2025. PMID: 39510533 Free PMC article.

10

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.

Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S. Tanaka A, et al. Among authors: tanaka t. Mol Genet Metab. 2012 Nov;107(3):513-20. doi: 10.1016/j.ymgme.2012.09.004. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23022072

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