Concepedia

Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype

S. E. Olpin, James R. Bonham, M. Downing, N. J. Manning, R. J. Pollitt, Mark Sharrard, M S Tanner

Journal of Inherited Metabolic Disease · 1997 · 37 citations · 2 references

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References

2

A comparison of [9,10‐<sup>3</sup>H]palmitic and [9,10‐<sup>3</sup>H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

N. J. Manning, S. E. Olpin, R. J. Pollitt et al. · Journal of Inherited Metabolic Disease · 1989 · 153 citations

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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