Literature DB >> 22154200

Thirty-year follow-up of carnitine supplementation in two siblings with hypertrophic cardiomyopathy caused by primary systemic carnitine deficiency.

Shintaro Kishimoto, Kenji Suda, Hironaga Yoshimoto, Yozo Teramachi, Hiroshi Nishino, Yusuke Koteda, Shinichi Itoh, Yoshiyuki Kudo, Motofumi Iemura, Toyojiro Matsuishi.   

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Year:  2011        PMID: 22154200     DOI: 10.1016/j.ijcard.2011.11.010

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN: 0167-5273            Impact factor:   4.164


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  6 in total

1.  Association between ACR1 gene product expression and cardiomyopathy in children.

Authors:  Yan Wang; Ling Niu; Xiuhua He; Ying Xue; Nan Ling; Zhenzhou Wang; Xinjiang An
Journal:  Exp Ther Med       Date:  2016-07-05       Impact factor: 2.447

2.  Systemic primary carnitine deficiency with hypoglycemic encephalopathy.

Authors:  Jae Sung Jun; Eun Joo Lee; Hyung Doo Park; Hae Sook Kim
Journal:  Ann Pediatr Endocrinol Metab       Date:  2016-12-31

3.  A case of atypical systemic primary carnitine deficiency in Saudi Arabia.

Authors:  Abdulrahman Alghamdi; Hani Almalki; Aiman Shawli; Rahaf Waggass; Fahad Hakami
Journal:  Pediatr Rep       Date:  2018-06-27

Review 4.  Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

Authors:  Loek L Crefcoeur; Gepke Visser; Sacha Ferdinandusse; Frits A Wijburg; Mirjam Langeveld; Barbara Sjouke
Journal:  J Inherit Metab Dis       Date:  2022-02-03       Impact factor: 4.750

5.  Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.

Authors:  Li-Yun Wang; Nien-I Chen; Pin-Wen Chen; Shu-Chuan Chiang; Wuh-Liang Hwu; Ni-Chung Lee; Yin-Hsiu Chien
Journal:  BMC Med Genet       Date:  2013-02-10       Impact factor: 2.103

Review 6.  Organic Cation Transporters in Human Physiology, Pharmacology, and Toxicology.

Authors:  Sophia L Samodelov; Gerd A Kullak-Ublick; Zhibo Gai; Michele Visentin
Journal:  Int J Mol Sci       Date:  2020-10-24       Impact factor: 5.923

  6 in total

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