MONTSERRAT
MORALES CONEJO
Profesora asociada de Ciencias de la Salud
Hospital Universitario 12 de Octubre
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (44)
2024
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Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition
Nutrients, Vol. 16, Núm. 1
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The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study
Medicina Clinica, Vol. 162, Núm. 3, pp. 103-111
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Women with Gaucher Disease
Biomedicines, Vol. 12, Núm. 3
2023
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Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)
European Journal of Clinical Nutrition
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Diagnosis, evaluation and monitoring of acute hepatic porphyria
Medicina Clinica
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Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi survey
JIMD Reports, Vol. 64, Núm. 1, pp. 90-103
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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
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Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria
International Journal of Molecular Sciences, Vol. 24, Núm. 1
2022
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Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation
Clinical and Experimental Dermatology
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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
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Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients
Medicina Clinica, Vol. 159, Núm. 8, pp. 380-384
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Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome
Journal of Neurology, Vol. 269, Núm. 6, pp. 3238-3248
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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
Genes, Vol. 13, Núm. 9
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
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Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals
Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
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Acute intermittent porphyria, givosiran, and homocysteine
Journal of Inherited Metabolic Disease
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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El cribado metabólico del recién nacido como modelo asistencial de la medicina de precisión. Perspectiva desde la Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM)
Revista espanola de salud publica, Vol. 95
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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
Neurogenetics, Vol. 22, Núm. 4, pp. 343-346