Literature DB >> 18443316

Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.

Irina A Anselm1, David L Coulter, Basil T Darras.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18443316     DOI： 10.1212/01.wnl.0000310987.04106.45

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  6 in total

1.  Downregulation of the creatine transporter SLC6A8 by JAK2.

Authors:  Manzar Shojaiefard; Zohreh Hosseinzadeh; Shefalee K Bhavsar; Florian Lang
Journal:  J Membr Biol       Date:  2012-03-11       Impact factor: 1.843

Review 2.  X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Authors:  Jiddeke M van de Kamp; Grazia M Mancini; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

3.  Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

Authors:  Annamaria Chilosi; Manuela Casarano; Alessandro Comparini; Francesca Maria Battaglia; Margherita Maria Mancardi; Cristina Schiaffino; Michela Tosetti; Vincenzo Leuzzi; Roberta Battini; Giovanni Cioni
Journal:  Orphanet J Rare Dis       Date:  2012-06-19       Impact factor: 4.123

4.  Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

Authors:  Jiddeke M van de Kamp; Petra J W Pouwels; Femke K Aarsen; Leontine W ten Hoopen; Dirk L Knol; Johannes B de Klerk; Ireneus F de Coo; Jan G M Huijmans; Cornelis Jakobs; Marjo S van der Knaap; Gajja S Salomons; Grazia M S Mancini
Journal:  J Inherit Metab Dis       Date:  2011-05-10       Impact factor: 4.982

5.  Hyperinsulinemia shifted energy supply from glucose to ketone bodies in early nonalcoholic steatohepatitis from high-fat high-sucrose diet induced Bama minipigs.

Authors:  Shu-lin Yang; Ji-han Xia; Yuan-yuan Zhang; Jian-gao Fan; Hua Wang; Jing Yuan; Zhan-zhao Zhao; Qin Pan; Yu-lian Mu; Lei-lei Xin; Yao-xing Chen; Kui Li
Journal:  Sci Rep       Date:  2015-09-11       Impact factor: 4.379

6.  SLC6A8 is involved in the progression of non-small cell lung cancer through the Notch signaling pathway.

Authors:  Yan Feng; Xiangyu Guo; Huaping Tang
Journal:  Ann Transl Med       Date:  2021-02
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.