Literature DB >> 7564256

Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system.

E Christensen1, J Vikre-Jørgensen.   

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Year:  1995        PMID： 7564256     DOI： 10.1007/BF00711776

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

Review 1.  Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.

Authors:  I Tein; D C De Vivo; F Bierman; P Pulver; L J De Meirleir; L Cvitanovic-Sojat; R A Pagon; E Bertini; C Dionisi-Vici; S Servidei
Journal:  Pediatr Res       Date:  1990-09       Impact factor: 3.756

2.  An improved and simplified radioisotopic assay for the determination of free and esterified carnitine.

Authors:  J D McGarry; D W Foster
Journal:  J Lipid Res       Date:  1976-05       Impact factor: 5.922

3.  Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.

Authors:  B O Eriksson; S Lindstedt; I Nordin
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

4.  Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts.

Authors:  W R Treem; C A Stanley; D N Finegold; D E Hale; P M Coates
Journal:  N Engl J Med       Date:  1988-11-17       Impact factor: 91.245

5.  Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency.

Authors:  C J Rebouche; A G Engel
Journal:  In Vitro       Date:  1982-05

Review 6.  Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

Authors:  C A Stanley; S DeLeeuw; P M Coates; C Vianey-Liaud; P Divry; J P Bonnefont; J M Saudubray; M Haymond; F K Trefz; G N Breningstall
Journal:  Ann Neurol       Date:  1991-11       Impact factor: 10.422

7.  Effects of pivalic acid-containing prodrugs on carnitine homeostasis and on response to fasting in children.

Authors:  E Holme; U Jodal; S Linstedt; I Nordin
Journal:  Scand J Clin Lab Invest       Date:  1992-09       Impact factor: 1.713
  7 in total
  4 in total

Review 1.  Carnitine deficiency-induced cardiomyopathy.

Authors:  D J Paulson
Journal:  Mol Cell Biochem       Date:  1998-03       Impact factor: 3.396

2.  Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

Authors:  A M Lund; F Joensen; D M Hougaard; L K Jensen; E Christensen; M Christensen; B Nørgaard-Petersen; M Schwartz; F Skovby
Journal:  J Inherit Metab Dis       Date:  2007-04-06       Impact factor: 4.982

Review 3.  Disorders of mitochondrial long-chain fatty acid oxidation.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

Authors:  Jan Rasmussen; Allan M Lund; Lotte Risom; Flemming Wibrand; Hannes Gislason; Olav W Nielsen; Lars Køber; Morten Duno
Journal:  Mol Genet Metab Rep       Date:  2014-05-22
  4 in total

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