MONTSERRAT
MORALES CONEJO
Profesora asociada de Ciencias de la Salud
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from 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