Publications (105) RAFAEL ENRÍQUEZ DE SALAMANCA LORENTE publications

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2015

  1. Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression

    Gene Therapy, Vol. 22, Núm. 11, pp. 856-865

  2. 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. Bone mineral density and vitamin D levels in erythropoietic protoporphyria

    Endocrine, Vol. 44, Núm. 3, pp. 803-807

  2. Erratum: Bone mineral density and vitamin D levels in erythropoietic protoporphyria (Endocrine (DOI 10.1007/s12020-013-9934-x))

    Endocrine

  3. 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

  4. 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

  5. Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice

    Human Molecular Genetics, Vol. 22, Núm. 14, pp. 2929-2940

2012

  1. Functional characterization of five protoporphyrinogen oxidase missense mutations found in argentinean variegate porphyria patients

    JIMD Reports (Springer), pp. 91-97

  2. 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

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

    Gene, Vol. 508, Núm. 1, pp. 15-20

  4. Porfirias

    Medicina interna (Elsevier), pp. 1708-1715

  5. Porfirias agudas en la unidad de cuidados intensivos

    Emergencias

  6. Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse

    PLoS ONE, Vol. 7, Núm. 3

  7. Transient and intensive pharmacological immunosuppression fails to improve AAV-based liver gene transfer in non-human primates.

    Journal of translational medicine, Vol. 10, pp. 122

2011

  1. Porfiriaconscientes

    Más dermatología, Núm. 15, pp. 2-3

  2. Sustained enzymatic correction by rAAV-mediated liver gene therapy protects against induced motor neuropathy in acute porphyria mice

    Molecular Therapy, Vol. 19, Núm. 2, pp. 243-250

  3. Tumour VEGF/Non Tumour VEGF protein expression ratio as a biomarker for survival in colorectal cancer patients

    European Journal of Surgical Oncology, Vol. 37, Núm. 6, pp. 526-531

  4. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man

    European Journal of Haematology, Vol. 86, Núm. 3, pp. 260-264