Javier Adolfo
de las Heras Montero
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (4)
2024
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
2021
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Leigh syndrome associated with TRMU gene mutations
Molecular Genetics and Metabolism Reports, Vol. 26
2019
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
2017
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Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
Scientific Reports, Vol. 7, Núm. 1