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Encarnació Riudor

Autonomous University of Barcelona

33

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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

2016 Mitochondrion
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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

2013 Journal of Inherited Metabolic Disease
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Safety of ornithine phenylacetate in cirrhotic decompensated patients: an open-label, dose-escalating, single-cohort study.

2013 Journal of Clinical Gastroenterology
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Hyperlactatemia and in Utero Exposure to Antiretrovirals: Is the Control Group the Clue?

2012 AIDS Research and Human Retroviruses
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Ornithine phenylacetate prevents disturbances of motor-evoked potentials induced by intestinal blood in rats with portacaval anastomosis

2012 Journal of Hepatology
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941 ORNITHINE PHENYLACETATE (OP) PREVENTS NEUROPHYSIOLOGICAL ABNORMALITIES IN AN EXPERIMENTAL MODEL OF HEPATIC ENCEPHALOPATHY

2011 Journal of Hepatology
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Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

2011 Clinical Genetics
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Glycogen Storage Disease Type III with Hypoketosis

2010 Journal of Pediatric Endocrinology and Metabolism
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Proteomic analysis in cerebrospinal fluid of patients with atypical nonketotic hyperglycinemia and pulmonary hypertension - A pilot study.

2009 Proteomics Clinical Applications
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Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential

2007 Journal of Inherited Metabolic Disease
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Citations (34)