Corpus ID: 75275261

Deficiencia enzimática D-bifuncional peroxisomal. Caso clínico

  title={Deficiencia enzim{\'a}tica D-bifuncional peroxisomal. Caso cl{\'i}nico},
  author={Raquel Ch{\'a}vez-Torres and Jaime Ruiz-Ch{\'a}vez and E. Ru{\'i}z-Cruz and Evelyn Ju{\'a}rez-Naranjo and L. Campos-Campos and L. A. Villanueva-Padr{\'o}n and Adriana Horta-Mart{\'i}nez and Mar{\'i}a de la Luz Montes-Castillo and V. Monroy-Hern{\'a}ndez and E. Hern{\'a}ndez-Caballero},
  journal={Revista médica del Instituto Mexicano del Seguro Social},
  • Raquel Chávez-Torres, Jaime Ruiz-Chávez, +7 authors E. Hernández-Caballero
  • Published 2008
  • Medicine
  • Revista médica del Instituto Mexicano del Seguro Social
  • : Newborn was referred with diagnosis of neonatal epilepsy. Medical team could suspect and confirm D-bifunctional peroxisomal enzymatic deficiency diagnosis. It was made by family antecedents, severe neonatal hypotonia, uncontrolled neonatal seizures, craniofacial dysmorphic features, psychomotor retardation, neuronal migration defect and a positive peroxisomal panel. The full study in skin fibroblasts involved enzyme analysis, complementation studies and DNA analysis. The accumulation of very… CONTINUE READING
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