PMC Articles for MedGen (Select 350276) - PMC

Hiroyuki Suzuki, Yusuke Kawamura, Keiichi Kinowaki, Norio Akuta, Kayoko Kasuya, Shunichiro Fujiyama, Hitomi Sezaki, Tetsuya Hosaka, Satoshi Saitoh, Masahiro Kobayashi, Mariko Kobayashi, Yasuji Arase, Kenji Ikeda, Fumitaka Suzuki, Yoshiyuki Suzuki, Hiromitsu Kumada

Intern Med. 2019 Jul 1; 58(13): 1891–1895. Published online 2019 Feb 25. doi: 10.2169/internalmedicine.2374-18

PMCID:: PMC6663524

Abstract Article PDF–845K

Select item 63710554.

Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARα

Michiharu Komatsu, Takefumi Kimura, Masahide Yazaki, Naoki Tanaka, Yang Yang, Takero Nakajima, Akira Horiuchi, Zhong-Ze Fang, Satoru Joshita, Akihiro Matsumoto, Takeji Umemura, Eiji Tanaka, Frank J. Gonzalez, Shu-ichi Ikeda, Toshifumi Aoyama

Biochim Biophys Acta. Author manuscript; available in PMC 2019 Feb 12.

Published in final edited form as: Biochim Biophys Acta. 2015 Mar; 1852(3): 473–481. Published online 2014 Dec 20. doi: 10.1016/j.bbadis.2014.12.011

PMCID:: PMC6371055

Abstract Article PDF–897K

Select item 62961975.

Adult-onset type II citrullinemia: Current insights and therapy

Kiyoshi Hayasaka, Chikahiko Numakura

Appl Clin Genet. 2018; 11: 163–170. Published online 2018 Dec 12. doi: 10.2147/TACG.S162084

PMCID:: PMC6296197

Abstract Article PDF–1.2M

Select item 57839806.

Sudden development of adult-onset type II citrullinemia after total gastrectomy: a case report

Ryuji Komine, Keisuke Minamimura, Akihiro Watanabe, Atushi Shimizu, Kazuhiko Mori, Toru Hirata, Takashi Kobayashi, Sotaro Akatsuka

Surg Case Rep. 2018 Dec; 4: 11. Published online 2018 Jan 25. doi: 10.1186/s40792-018-0420-9

PMCID:: PMC5783980

Abstract Article PDF–316K

Select item 51212587.

Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia

Kiyoshi Hayasaka, Chikahiko Numakura, Kentaro Toyota, Satoru Kakizaki, Hisayoshi Watanabe, Hiroaki Haga, Hiroshi Takahashi, Yoshimi Takahashi, Mieko Kaneko, Mitsunori Yamakawa, Hiroyuki Nunoi, Takeo Kato, Yoshiyuki Ueno, Masatomo Mori

Mol Genet Metab Rep. 2014; 1: 42–50. Published online 2014 Jan 14. doi: 10.1016/j.ymgmr.2013.12.002

PMCID:: PMC5121258

Abstract Article PDF–486K

Select item 50572498.

Anesthetic experience of an adult male with citrullinemia type II: a case report

Jung Ju Choi, Hong Soon Kim, Kyung Cheon Lee, Youseok Shin, Youn Yi Jo

BMC Anesthesiol. 2016; 16: 92. Published online 2016 Oct 11. doi: 10.1186/s12871-016-0253-7

PMCID:: PMC5057249

Abstract Article PDF–397K

Select item 32053639.

Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia

Bum Soo Kim, Sun Hyung Joo, Suk Hwan Lee, Jung Il Lee, Hyun Cheol Kim, Deok Ho Nam, Ho Chul Park

J Korean Surg Soc. 2011 Jun; 80(Suppl 1): S51–S54. Published online 2011 Jun 17. doi: 10.4174/jkss.2011.80.Suppl1.S51

PMCID:: PMC3205363

Abstract Article PDF–1.0M

Select item 168231810.

A search for the primary abnormality in adult-onset type II citrullinemia.

K Kobayashi, N Shaheen, R Kumashiro, K Tanikawa, W E O'Brien, A L Beaudet, T Saheki

Am J Hum Genet. 1993 Nov; 53(5): 1024–1030.

PMCID:: PMC1682318

Summary Page Browse PDF–1.0M

Select item 1022405411.

Citrin Deficiency: Clinical and Nutritional Features

Michiharu Komatsu, Naoki Tanaka, Takefumi Kimura, Masahide Yazaki

Nutrients. 2023 May; 15(10): 2284. Published online 2023 May 12. doi: 10.3390/nu15102284

PMCID:: PMC10224054

Abstract Article PDF–1.3M

Select item 979100512.

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Sung Sup Park, Jung Min Ko, Moon-Woo Seong, Jong Hee Chae

Ann Lab Med. 2023 May 1; 43(3): 280–289. Published online 2022 Dec 22. doi: 10.3343/alm.2023.43.3.280

PMCID:: PMC9791005

Abstract Article PDF–537K

Select item 761423013.

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency

Sotiria Tavoulari, Denis Lacabanne, Chancievan Thangaratnarajah, Edmund R.S. Kunji

Trends Endocrinol Metab. Author manuscript; available in PMC 2023 Feb 24.

Published in final edited form as: Trends Endocrinol Metab. 2022 Aug 1; 33(8): 539–553. Published online 2022 Jun 17. doi: 10.1016/j.tem.2022.05.002

PMCID:: PMC7614230

Abstract Article PDF–4.0M

Select item 746589014.

AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures

Takeyori Saheki, Mitsuaki Moriyama, Aki Funahashi, Eishi Kuroda

Biomolecules. 2020 Aug; 10(8): 1100. Published online 2020 Jul 24. doi: 10.3390/biom10081100

PMCID:: PMC7465890

Abstract Article PDF–3.7M

Select item 722636115.

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

Ferdinando Palmieri, Pasquale Scarcia, Magnus Monné

Biomolecules. 2020 Apr; 10(4): 655. Published online 2020 Apr 23. doi: 10.3390/biom10040655

PMCID:: PMC7226361

Abstract Article PDF–2.8M

Select item 633977416.

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

Suprovath Kumar Sarker, Md Tarikul Islam, Aparna Biswas, Golam Sarower Bhuyan, Rosy Sultana, Nusrat Sultana, Shagoofa Rakhshanda, Mst. Noorjahan Begum, Asifuzzaman Rahat, Sharmina Yeasmin, Mowshori Khanam, Asim Kumar Saha, Farjana Akther Noor, Abu A. Sajib, Abul B. M. M. K. Islam, Syeda Kashfi Qadri, Mohammod Shahidullah, Mohammad Abdul Mannan, A. K. M. Muraduzzaman, Tahmina Shirin, Sheikh Maksudur Rahman, Syed Saleheen Qadri, Narayan Saha, Sharif Akhteruzzaman, Firdausi Qadri, Kaiissar Mannoor

Biomed Res Int. 2019; 2019: 3460902. Published online 2019 Jan 6. doi: 10.1155/2019/3460902

PMCID:: PMC6339774

Abstract Article PDF–932K

Select item 377799717.

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, Xin-Jing Zhao, Mei Deng, Yan-Li Ma, Li Guo, Feng-Ping Chen, Xiao-Ling Long, Xiang-Ling He, Yoshihide Sunada, Shun Soneda, Akiko Nakatomi, Sumito Dateki, Lock-Hock Ngu, Keiko Kobayashi, Takeyori Saheki

PLoS One. 2013; 8(9): e74544. Published online 2013 Sep 19. doi: 10.1371/journal.pone.0074544

PMCID:: PMC3777997

Abstract Article PDF–2.0M

Select item 348320618.

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants

Suporn Treepongkaruna, Suttiruk Jitraruch, Porawee Kodcharin, Dussadee Charoenpipop, Pim Suwannarat, Paneeya Pienvichit, Keiko Kobayashi, Duangrurdee Wattanasirichaigoon

BMC Gastroenterol. 2012; 12: 141. Published online 2012 Oct 15. doi: 10.1186/1471-230X-12-141

PMCID:: PMC3483206

Abstract Article PDF–389K

Select item 269462719.

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants

Jae Sung Ko, Jung Han Song, Sung Sup Park, Jeong Kee Seo

J Korean Med Sci. 2007 Dec; 22(6): 952–956. Published online 2007 Dec 20. doi: 10.3346/jkms.2007.22.6.952

PMCID:: PMC2694627

Abstract Article PDF–85K

Select item 1100449720.

Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder

Davoud Amirkashani, Saeid Talebi, Mohammad Vafaei shahi, Ali Zekri, Parisa Abdi, Mahdokht Mehramiz

Am J Ophthalmol Case Rep. 2024 Jun; 34: 102044. Published online 2024 Mar 28. doi: 10.1016/j.ajoc.2024.102044

PMCID:: PMC11004497

Abstract Article PDF–1.7M

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