Literature DB >> 3185635

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

W R Treem1, C A Stanley, D N Finegold, D E Hale, P M Coates.   

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Year:  1988        PMID： 3185635     DOI： 10.1056/NEJM198811173192006

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


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  46 in total

Review 1.  Role of plasma membrane transporters in muscle metabolism.

Authors:  A Zorzano; C Fandos; M Palacín
Journal:  Biochem J       Date:  2000-08-01       Impact factor: 3.857

2.  Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.

Authors:  C A Stanley; F Sunaryo; D E Hale; J P Bonnefont; F Demaugre; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  CARNITINE HOMEOSTASIS, MITOCHONDRIAL FUNCTION, AND CARDIOVASCULAR DISEASE.

Authors:  Shruti Sharma; Stephen M Black
Journal:  Drug Discov Today Dis Mech       Date:  2009

Review 4.  Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Authors:  Harjot K Saini-Chohan; Ryan W Mitchell; Frédéric M Vaz; Teresa Zelinski; Grant M Hatch
Journal:  J Lipid Res       Date:  2011-11-07       Impact factor: 5.922

Review 5.  New insights concerning the role of carnitine in the regulation of fuel metabolism in skeletal muscle.

Authors:  Francis B Stephens; Dumitru Constantin-Teodosiu; Paul L Greenhaff
Journal:  J Physiol       Date:  2007-03-01       Impact factor: 5.182

Review 6.  Carnitine biosynthesis in mammals.

Authors:  Frédéric M Vaz; Ronald J A Wanders
Journal:  Biochem J       Date:  2002-02-01       Impact factor: 3.857

7.  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

Review 8.  L-Carnitine.

Authors:  J H Walter
Journal:  Arch Dis Child       Date:  1996-06       Impact factor: 3.791

9.  Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

Authors:  M Kilic; R K Ozgül; T Coşkun; D Yücel; M Karaca; H S Sivri; A Tokatli; M Sahin; T Karagöz; A Dursun
Journal:  JIMD Rep       Date:  2011-09-22

10.  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
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