Publications (118) RAFAEL ENRÍQUEZ DE SALAMANCA LORENTE publications

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2024

  1. Exploring current and emerging therapies for porphyrias

    Liver International, Vol. 44, Núm. 9, pp. 2174-2190

  2. Porfirias

    Medicina interna (Elsevier España), pp. 1865-1873

2023

  1. Diagnosis, evaluation and monitoring of acute hepatic porphyria

    Medicina Clinica

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

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

2021

  1. Acute intermittent porphyria, givosiran, and homocysteine

    Journal of Inherited Metabolic Disease

2020

  1. Molecular analysis of 55 spanish patients with acute intermittent porphyria

    Genes, Vol. 11, Núm. 8, pp. 1-13

  2. Porfirias

    Medicina interna [19ª ed.] (Elsevier España)

2019

  1. Molecular analysis of 19 Spanish patients with mixed porphyrias

    European Journal of Medical Genetics, Vol. 62, Núm. 12

2018

  1. An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria

    Human Gene Therapy, Vol. 29, Núm. 4, pp. 480-491

2017

  1. Prognostic models for locally advanced cervical cancer: External validation of the published models

    Journal of Gynecologic Oncology, Vol. 28, Núm. 5

2016

  1. Porfirias

    Medicina interna (Elsevier), pp. 1770-1777

  2. The power of the Hoesch test

    Journal of Negative and No Positive Results: JONNPR, Vol. 1, Núm. 1, pp. 13-18

2015

  1. Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria

    Journal of Proteomics, Vol. 127, pp. 377-385

2014

  1. A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro

    American Journal of Hematology, Vol. 89, Núm. 7, pp. 689-694

  2. Porfirias

    Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias (Ergon), pp. 747-760

2013

  1. Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation

    Gene, Vol. 522, Núm. 1, pp. 89-95

  2. Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population

    Journal of the European Academy of Dermatology and Venereology, Vol. 27, Núm. 6, pp. 754-762

2012

  1. Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations

    Molecular Genetics and Metabolism, Vol. 105, Núm. 4, pp. 629-633

  2. Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis

    Gene, Vol. 508, Núm. 1, pp. 15-20

  3. Porfirias agudas en la unidad de cuidados intensivos

    Emergencias