Literature DB >> 9323572

Carnitine-acylcarnitine translocase deficiency--a mild phenotype.

S E Olpin1, J R Bonham, M Downing, N J Manning, R J Pollitt, M J Sharrard, M S Tanner.   

Abstract

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Year:  1997        PMID： 9323572     DOI： 10.1023/a:1005343013873

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


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  5 in total

Review 1.  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

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

3.  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

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

5.  Transcriptional Regulation of the Mitochondrial Citrate and Carnitine/Acylcarnitine Transporters: Two Genes Involved in Fatty Acid Biosynthesis and β-oxidation.

Authors:  Vito Iacobazzi; Vittoria Infantino; Ferdinando Palmieri
Journal:  Biology (Basel)       Date:  2013-01-29
  5 in total

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