Consuelo C. Pedrón

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The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in(More)
OBJECTIVES The objectives of this study were to evaluate the feasibility of using multifrequency bioelectrical impedance spectroscopy (BIS) in newborns and first-semester infants and to assess the influence of diverse methodologic and biological factors on BIS measurements. METHODS We studied 69 infants of both sexes, from the first day after birth(More)
Stefan Kölker & Vassili Valayannopoulos & Alberto B. Burlina & Jolanta Sykut-Cegielska & Frits A. Wijburg & Elisa Leão Teles & Jiri Zeman & Carlo Dionisi-Vici & Ivo Barić & Daniela Karall & Jean-Baptiste Arnoux & Paula Avram & Matthias R. Baumgartner & Javier Blasco-Alonso & S. P. Nikolas Boy & Marlene Bøgehus Rasmussen & Peter Burgard & Brigitte Chabrol &(More)
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