Impact of D-bifunctional Protein Deficiency on Telomere Length and Gene Expression in a Child
@article{HernndezCaballero2013ImpactOD, title={Impact of D-bifunctional Protein Deficiency on Telomere Length and Gene Expression in a Child}, author={M. E. Hern{\'a}ndez-Caballero and D. Arenas-Aranda and Raquel Ch{\'a}vez-Torres and J. A. Sierra-Ram{\'i}rez and Calzada-Mendoza Claudia Camelia}, journal={British journal of medicine and medical research}, year={2013}, volume={3}, pages={351-360} }
Aim: To explore, in one patient, the possibility that D-bifunctional protein (D-BP) deficiency affects telomere length, and to determine the profile of genetic expression. Presentation of Case: Due to the symptoms of a newborn and his family background, a peroxisomal panel was performed. There were high levels of very long chain fatty acids and abnormal peroxisomes. At 8 months the patient exhibited other complications, including progressive multi systemic deterioration, and at 15 months died… CONTINUE READING
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