Diagnóstico y tratamiento de la aciduria metilmalónica: a propósito de un caso

Mahfoud, Antonieta; Domínguez, Carmen L; Pérez, Analy; Rizzo, Cristiano; Merinero, Begoña; Pérez, Belén.
Invest. clín ; 48(1): 99-105, mar. 2007. tab
Artículo en Español | LILACS | ID: lil-486695

Documentos relacionados

  1. Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia.
  2. Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
  3. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
  4. [MOLECULAR-GENETIC ASPECTS OF METHYLMALONIC ACIDURIA DEVELOPMENT (REVIEW)].
  5. New insights into the pathophysiology of methylmalonic acidemia.
  6. Methylmalonic Acid Compromises Respiration and Reduces the Expression of Differentiation Markers of SH-SY5Y Human Neuroblastoma Cells.
  7. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
  8. Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing.
  9. Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria.
  10. Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.