Literature DB >> 7564255

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

K E Niezen-Koning1, F J van Spronsen, L Ijlst, R J Wanders, M Brivet, M Duran, D J Reijngoud, H S Heymans, G P Smit.   

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Year:  1995        PMID: 7564255     DOI: 10.1007/BF00711775

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


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  7 in total

Review 1.  Fatty acid oxidation disorders: a new class of metabolic diseases.

Authors:  D E Hale; M J Bennett
Journal:  J Pediatr       Date:  1992-07       Impact factor: 4.406

2.  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

3.  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 4.  New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.

Authors:  C A Stanley
Journal:  Adv Pediatr       Date:  1987

5.  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

6.  Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.

Authors:  R J Wanders; L Ijlst
Journal:  Biochim Biophys Acta       Date:  1992-01-16

Review 7.  Molecular basis of mitochondrial fatty acid oxidation defects.

Authors:  P M Coates; K Tanaka
Journal:  J Lipid Res       Date:  1992-08       Impact factor: 5.922

  7 in total
  9 in total

Review 1.  Metabolic cardiomyopathies.

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

Review 2.  Defects in activation and transport of fatty acids.

Authors:  M Brivet; A Boutron; A Slama; C Costa; L Thuillier; F Demaugre; D Rabier; J M Saudubray; J P Bonnefont
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  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 4.  Mammalian mitochondrial beta-oxidation.

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

5.  Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.

Authors:  Isidro Vitoria; Elena Martín-Hernández; Luis Peña-Quintana; María Bueno; Pilar Quijada-Fraile; Jaime Dalmau; Sofia Molina-Marrero; Belén Pérez; Begoña Merinero
Journal:  JIMD Rep       Date:  2015-01-23

6.  The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins.

Authors:  C Indiveri; V Iacobazzi; N Giangregorio; F Palmieri
Journal:  Biochem J       Date:  1997-02-01       Impact factor: 3.857

Review 7.  Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.

Authors:  D Galron; O S Birk; A Kazanovitz; S W Moses; E Hershkovitz
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 8.  Disorders of mitochondrial long-chain fatty acid oxidation.

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

9.  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

  9 in total

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