Concepedia

Mutational spectrum and DNA-based prenatal diagnosis in carnitine–acylcarnitine translocase deficiency

Carlos A. Bana e Costa, José Manuel Correia da Costa, Abdelhamid Slama, Audrey Boutron, Christiane Vequaud, A. Legrand, M. Brivet

Molecular Genetics and Metabolism · 2003 · 34 citations · 18 references

DOI

Concepts

References

18

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

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

Cesare Indiveri, Vito Iacobazzi, Nicola Giangregorio et al. · Biochemical Journal · 1997 · 147 citations · Full text

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Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient

Marjan Huizing, Vito Iacobazzi, Lodewijk IJlst et al. · The American Journal of Human Genetics · 1997 · 143 citations · Full text

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

S.V. Pande, M. Brivet, Abdelhamid Slama et al. · Journal of Clinical Investigation · 1993 · 109 citations · Full text

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Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death

R. A. Chalmers, Charles A. Stanley, Nicholas R. English et al. · The Journal of Pediatrics · 1997 · 75 citations

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