María Julieta González

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OBJECTIVE To investigate the relationship between neurological complications, neuroradiological findings, and behavioral problems, age at diagnosis and dietary control along the follow-up of the PKU patients in our metabolic unit. DESIGN Retrospective study of the PKU patients diagnosed and controlled in our unit from 1985 to 2010. METHODS Registry of(More)
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)
PURPOSE To investigate the influence of the water content in non-ionic hydrogel contact lenses (HCL) on the mRNA levels of human conjunctival mucin genes (MUCs). METHODS Sixteen healthy subjects with no history of contact lenses wear were selected and randomized into two equal groups. Group 1 subjects wore low water content (38%, Soflens 38) non-ionic(More)
BACKGROUND AND OBJECTIVE To evaluate the management of phenylketonuria (PKU) in Spanish metabolic units and to develop a patients registry. PATIENTS AND METHODS PKU patients diagnosed and/or followed up in Spain, with phenylalanine values before treatment > 360 μmol/L. Registered anonymous data are those yielded by the units during 2010. RESULTS Data(More)
BACKGROUND The use of new recombinant antigens may increase the sensitivity and specificity of the detection of anti Ro and anti La antibodies in Sjögren's syndrome. AIM To determine the immune reactivity of sera from patients with Sjögren's syndrome, against fusion recombinant proteins (prf) Ro60 Kd, Ro52 Kd and La48 Kd expressed in E coli and(More)
The welfare of research participants must be guaranteed by international ethical standards. This article communicates the procedures of the Research Ethics Committee of the School of Medicine, University of Chile (CEISH). The new Chilean legislation on research in human beings is also discussed. Law 20.120: "On scientific research in human beings, its(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)
Cerebral neurotransmitter (NT) deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria (PKU), even in early-treated phenylketonuric patients. The study aimed to review dopamine and serotonin status in PKU, and the effect of the impaired neurotransmission. Several mechanisms are involved in the(More)
BACKGROUND Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the first months/years of age or even later in adulthood. Early diagnosis and timely treatments are often pivotal for the favorable course of(More)
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