Publications (59) Publications de MONTSERRAT MORALES CONEJO

2024

  1. Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition

    Nutrients, Vol. 16, Núm. 1

  2. 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

  3. 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

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

    Clinical and Experimental Dermatology

  2. 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

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

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

  4. 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

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

    Genes, Vol. 13, Núm. 9

  6. Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

    Nutrients, Vol. 14, Núm. 13

  7. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  8. 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