MONTSERRAT
MORALES CONEJO
Profesora asociada de Ciencias de la Salud
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacions en col·laboració amb investigadors/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)
2024
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Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation
Neuroradiology, Vol. 66, Núm. 3, pp. 389-398
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PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria
Revista Clinica Espanola, Vol. 224, Núm. 5, pp. 272-280
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Women with Gaucher Disease
Biomedicines, Vol. 12, Núm. 3
2023
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Diagnosis, evaluation and monitoring of acute hepatic porphyria
Medicina Clinica
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High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
European Journal of Neurology, Vol. 30, Núm. 2, pp. 538-547
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Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome
Journal of Clinical Medicine, Vol. 12, Núm. 6
2022
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Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit
Revista Clinica Espanola, Vol. 222, Núm. 8, pp. 486-495
2020
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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
Journal of Genetics, Vol. 99, Núm. 1
2017
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Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias. Servicio de Pediatría. Hospital Universitario 12 de Octubre
Revista Espanola de Pediatria, Vol. 73, Núm. 1, pp. 41-45