Literature DB >> 1598097

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.

C A Stanley1, D E Hale, G T Berry, S Deleeuw, J Boxer, J P Bonnefont.   

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Year:  1992        PMID： 1598097     DOI： 10.1056/NEJM199207023270104

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


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  38 in total

Review 1.  Functional, structural, and genetic mitochondrial abnormalities in myocardial diseases.

Authors:  A Brega; J Narula; E Arbustini
Journal:  J Nucl Cardiol       Date:  2001 Jan-Feb       Impact factor: 5.952

2.  Localization of mitochondrial carnitine/acylcarnitine translocase in sensory neurons from rat dorsal root ganglia.

Authors:  Annamaria Tonazzi; Cristina Mantovani; Matilde Colella; Giorgio Terenghi; Cesare Indiveri
Journal:  Neurochem Res       Date:  2013-10-09       Impact factor: 3.996

3.  Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.

Authors:  M Brivet; A Slama; D S Millington; C R Roe; F Demaugre; A Legrand; A Boutron; F Poggi; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 4.  L-Carnitine.

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

Review 5.  20,000 picometers under the OMM: diving into the vastness of mitochondrial metabolite transport.

Authors:  Corey N Cunningham; Jared Rutter
Journal:  EMBO Rep       Date:  2020-04-23       Impact factor: 8.807

6.  A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.

Authors:  K E Niezen-Koning; F J van Spronsen; L Ijlst; R J Wanders; M Brivet; M Duran; D J Reijngoud; H S Heymans; G P Smit
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.

Authors:  M Brivet; A Slama; H Ogier; A Boutron; F Demaugre; J M Saudubray; A Lemonnier
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 8.  Peroxisome proliferator-activated receptor alpha and hypertensive heart disease.

Authors:  Maria J Goikoetxea; Javier Beaumont; Javier Díez
Journal:  Drugs       Date:  2004       Impact factor: 9.546

Review 9.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

10.  Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

Authors:  S V Pande; M Brivet; A Slama; F Demaugre; C Aufrant; J M Saudubray
Journal:  J Clin Invest       Date:  1993-03       Impact factor: 14.808
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