scholarly journals Primary systemic carnitine deficiency is caused by mutations in a carnitine transporter OCTN2

1999 ◽  
Vol 79 ◽  
pp. 108
Author(s):  
Jun-ichi Nezu ◽  
Ikumi Tamai ◽  
Asuka Oku ◽  
Rikiya Ohashi ◽  
Yoshimichi Sai ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Carnitine Transporter ◽  
Systemic Carnitine Deficiency

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Berna Seker Yilmaz ◽  
Deniz Kor ◽  
Neslihan Onenli Mungan ◽  
Sevcan Erdem ◽  
Serdar Ceylaner
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Carnitine Deficiency ◽  
Carnitine Transporter ◽  
Hypoglycemic Encephalopathy ◽  
Primary Carnitine Deficiency ◽  
Turkish Case ◽  
Systemic Carnitine Deficiency

AbstractSystemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

10.1038/5030 ◽  
1999 ◽  
Vol 21 (1) ◽  
pp. 91-94 ◽  
Author(s):  
Jun-ichi Nezu ◽  
Ikumi Tamai ◽  
Asuka Oku ◽  
Rikiya Ohashi ◽  
Hikaru Yabuuchi ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Sodium Ion ◽  
Gene Encoding ◽  
Carnitine Transporter ◽  
Systemic Carnitine Deficiency

Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

1996 ◽  
Vol 19 (3) ◽  
pp. 243-246 ◽  
Author(s):  
Michael J. Bennett ◽  
Daniel E. Hale ◽  
Rodney J. Pollitt ◽  
Sadick Variend ◽  
Charles A. Stanley
Keyword(s):  
Plasma Membrane ◽  
Carnitine Deficiency ◽  
Endocardial Fibroelastosis ◽  
Carnitine Transporter ◽  
Primary Carnitine Deficiency

scholarly journals 1143 METABOLIC EFFECTS OF TREATMENT OF SYSTEMIC CARNITINE DEFICIENCY

1981 ◽  
Vol 15 ◽  
pp. 633-633 ◽  
Author(s):  
Douglas Kerr ◽  
Susan Shurin ◽  
Kou-Yi Tserng ◽  
Charles Hoppel
Keyword(s):  
Carnitine Deficiency ◽  
Metabolic Effects ◽  
Systemic Carnitine Deficiency
Sign in / Sign up

Export Citation Format

Share Document