Organización Sanitaria Integrada Ezkerraldea-Enkarterri-Cruces
Organización de Osakidetza
Hospital de São João
Oporto, PortugalPublications en collaboration avec des chercheurs de Hospital de São João (14)
2019
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Clinical and genetic characteristics of late-onset Huntington's disease
Parkinsonism and Related Disorders, Vol. 61, pp. 101-105
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Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798
2018
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Long-term safety of in utero exposure to anti-TNFα drugs for the treatment of inflammatory bowel disease: Results from the multicenter European TEDDY study
American Journal of Gastroenterology, Vol. 113, Núm. 3, pp. 396-403
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Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study
Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222
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Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes
Pediatric Diabetes, Vol. 19, Núm. 3, pp. 559-565
2017
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Cognitive decline in Huntington's disease expansion gene carriers
Cortex, Vol. 95, pp. 51-62
2014
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Echocardiographic reference ranges for normal cardiac chamber size: Results from the NORRE study
European Heart Journal Cardiovascular Imaging, Vol. 15, Núm. 6, pp. 680-690
2013
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Lessons from the Hvidoere International Study Group on childhood diabetes: Be dogmatic about outcome and flexible in approach
Pediatric Diabetes, Vol. 14, Núm. 7, pp. 473-480
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The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients
PLoS ONE, Vol. 8, Núm. 7
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β-defensin genomic copy number does not influence the age of onset in huntington’s disease
Journal of Huntington's Disease, Vol. 2, Núm. 1, pp. 107-124
2012
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Discrepancies in reporting the CAG repeat lengths for Huntington’s disease
European Journal of Human Genetics, Vol. 20, Núm. 1, pp. 20-26
2010
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Recommendations and management of type i hereditary or hepatorenal tyrosinemia
Anales de Pediatria, Vol. 73, Núm. 5
2000
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Fetal cardiotocography during cesarean section (multiple letters)
European Journal of Obstetrics and Gynecology and Reproductive Biology
1995
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Factors influencing the immediate and late outcome of Cushing's disease treated by transsphenoidal surgery: A retrospective study by the European Cushing's Disease Survey Group
Journal of Clinical Endocrinology and Metabolism, Vol. 80, Núm. 11, pp. 3114-3120