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Literature DB >> 10384384

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.

C Costa¹, J M Costa, J M Nuoffer, A Slama, A Boutron, J M Saudubray, A Legrand, M Brivet.

Abstract

Entities: Chemical Disease Gene Mutation

Mesh：

Substances：

Year: 1999 PMID： 10384384 DOI： 10.1023/a:1005590223680

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

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4 in total

1. 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

2. Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.

Authors: M Huizing; U Wendel; W Ruitenbeek; V Iacobazzi; L IJlst; P Veenhuizen; P Savelkoul; L P van den Heuvel; J A Smeitink; R J Wanders; J M Trijbels; F Palmieri
Journal: J Inherit Metab Dis Date: 1998-06 Impact factor: 4.982

3. 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. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization.

Authors: L Viggiano; V Iacobazzi; R Marzella; C Cassano; M Rocchi; F Palmieri
Journal: Cytogenet Cell Genet Date: 1997

4 in total

Review 4. 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

4 in total

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.

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

2. Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.

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

4. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization.

Review 1. Physiological and pathological roles of mitochondrial SLC25 carriers.

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

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

Review 4. Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.