FACULTAD DE CIENCIAS DE LA SALUD (SO)
Centro
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (5)
2019
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
2017
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DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress
PLoS ONE, Vol. 12, Núm. 6
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Exercise Intervention in Pediatric Patients with Solid Tumors: The Physical Activity in Pediatric Cancer Trial
Medicine and Science in Sports and Exercise, Vol. 49, Núm. 2, pp. 223-230
2016
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Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043
2015
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Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG
Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48