Literature DB >> 7254270

Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy.

M E Tripp, M L Katcher, H A Peters, E F Gilbert, S Arya, R J Hodach, A L Shug.   

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Year:  1981        PMID： 7254270     DOI： 10.1056/NEJM198108133050707

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  39 in total

1.  Lipid storage myopathy.

Authors:  A A S Rifat Mannan; A M Ralte; M C Sharma; S Gulati; V Kalra; C Sarkar
Journal:  Indian J Pediatr       Date:  2004-03       Impact factor: 1.967

2.  Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.

Authors:  P Steenhout; C Elmer; A Clercx; D Blum; D Gnat; S van Erum; F Vertongen; E Vamos
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

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.  Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts.

Authors:  I Tein; S DiMauro; Z W Xie; D C De Vivo
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  The myocardial distribution and plasma concentration of carnitine in patients with mitral valve disease.

Authors:  T Nakagawa; M Sunamori; A Suzuki
Journal:  Surg Today       Date:  1994       Impact factor: 2.549

6.  Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

Authors:  M Duran; J B de Klerk; S K Wadman; H R Scholte; R P Beekman; F G Jennekens
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

7.  Carnitine metabolism and inborn errors.

Authors:  A G Engel; C J Rebouche
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.

Authors:  J Müller-Höcker; D Pongratz; T Deufel; J M Trijbels; W Endres; G Hübner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

Review 9.  l-Carnitine. A preliminary review of its pharmacokinetics, and its therapeutic use in ischaemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism.

Authors:  K L Goa; R N Brogden
Journal:  Drugs       Date:  1987-07       Impact factor: 9.546

10.  Endocardial fibroelastosis and hypoplasia of the left ventricle in neonates without significant aortic stenosis.

Authors:  P C Ursell; C A Neill; R H Anderson; S Y Ho; A E Becker; L M Gerlis
Journal:  Br Heart J       Date:  1984-05
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