Publications (62) MONTSERRAT MORALES CONEJO publications

2024

  1. Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition

    Nutrients, Vol. 16, Núm. 1

  2. Identification of patient-reported outcomes measures (PROMs) and patient-reported experiences measures (PREMs) in Gaucher disease in Spain

    Medicina Clinica

  3. 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

  4. 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

  5. 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

  6. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. Coma en adulto joven de causa inhabitual

    Revista Española de Casos Clínicos en Medicina Interna (RECCMI), Vol. 8, Núm. 1, pp. 35-38

  2. 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

  3. Diagnosis, evaluation and monitoring of acute hepatic porphyria

    Medicina Clinica

  4. 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

  5. Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  6. 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

  7. 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

  8. Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria

    International Journal of Molecular Sciences, Vol. 24, Núm. 1

2022

  1. Abordaje en urgencias de los errores congénitos del metabolismo

    Manual de diagnóstico y terapéutica médica (Hospital Universitario 12 de Octubre), pp. 835-842

  2. Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation

    Clinical and Experimental Dermatology

  3. 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

  4. Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients

    Medicina Clinica, Vol. 159, Núm. 8, pp. 380-384

  5. 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

  6. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

    Genes, Vol. 13, Núm. 9