Literature DB >> 7807931

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.

M Brivet1, A Slama, H Ogier, A Boutron, F Demaugre, J M Saudubray, A Lemonnier.   

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Year:  1994        PMID： 7807931     DOI： 10.1007/bf00711805

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


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  4 in total

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

Authors:  C A Stanley; D E Hale; G T Berry; S Deleeuw; J Boxer; J P Bonnefont
Journal:  N Engl J Med       Date:  1992-07-02       Impact factor: 91.245

2.  Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.

Authors:  B T Poll-The; O H Skjeldal; O Stokke; A Poulos; F Demaugre; J M Saudubray
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

3.  Complementation analysis of fatty acid oxidation disorders.

Authors:  A Moon; W J Rhead
Journal:  J Clin Invest       Date:  1987-01       Impact factor: 14.808

4.  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
  4 in total
  4 in total

1.  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

2.  Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

Authors:  R Parini; F Invernizzi; F Menni; B Garavaglia; D Melotti; M Rimoldi; S Salera; C Tosetto; F Taroni
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

Review 3.  Mammalian mitochondrial beta-oxidation.

Authors:  S Eaton; K Bartlett; M Pourfarzam
Journal:  Biochem J       Date:  1996-12-01       Impact factor: 3.857

4.  Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Authors:  M Huizing; V Iacobazzi; L Ijlst; P Savelkoul; W Ruitenbeek; L van den Heuvel; C Indiveri; J Smeitink; F Trijbels; R Wanders; F Palmieri
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025
  4 in total

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